Database IDdiagnostics
Version 1.53
File IDdiags.html
Date 06-Oct-1999 (Created)
Date 08-Oct-2008 (Last updated)
Curator Mauno Vihinen
Address Institute of Medical Technology, University of Tampere,
Address FIN-33014 Tampere, Finland
Phone +358-3-215 7735
Fax +358-3-215 7710
Email Mauno.Vihinen@uta.fi
Maintainer Crina Samarghitean
Address Institute of Medical Technology, University of Tampere,
Address FIN-33014 Tampere, Finland
Phone +358-3-215 8915
Fax +358-3-215 8915
Email Crina.Samarghitean@uta.fi
Funding Finnish Academy, European Union,
Funding Tampere University Hospital Medical Research
URL http://structure.bmc.lu.se/idbase/IDdiagnostics/
FTP ftp://protein.uta.fi/pub/iddiags.dat
//
Disease X-linked agammaglobulinemia (XLA)
Accession I0008
Date 02-Nov-1999 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF22.xml
OMIM 300300
Gene BTK
IDbase BTKbase
Contact Dr. Rik. A. Brooimans
Address Wilhelmina Children's Hospital Dept. of Immunology
Address Lundlaan 6, 3584 EA Utrecht, The Netherlands
Telephone +31-302504354
Fax +31-302505311
Email r.brooimans@wkz.azu.nl
Method Direct sequencing
Turnaround 1 month
Samples 8
//
Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Accession I0009
Date 17-Dec-1999 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF71.xml
OMIM 300392
Gene WAS
IDbase WASbase
Contact Dr. M. Losekoot
Address Dept. of Human and Clinical Genetics, DNA-diagnostic
Address section
Address Leiden University Medical Centre, The Netherlands
Telephone +31-071-5276082
Fax +31-071-5271601
Email m.losekoot@kgc.azl.nl
Method Direct sequencing
Frequency 2 cases/year
Turnaround 3 months
Samples 2 samples/year
Price About 500 EUR
//
Disease RAG1 deficiency
Accession I0022
Date 27-Dec-1999 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF2.xml
OMIM 179615
Gene RAG1
IDbase RAG1base
Contact Dr. Anna Villa
Address CNR-ITB Via Fratelli Cervi 93, 20090 Segrate (MI), Italy
Telephone +39-02-26422636
Fax +39-02-26422660
Email anna.villa@itb.cnr.it
URL www.itba.mi.cnr.it
Method Direct sequencing
Frequency Weekly
Turnaround 1 month
Samples 20
Price Free
//
Disease RAG2 deficiency
Accession I0023
Date 27-Dec-1999 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF3.xml
OMIM 179616
Gene RAG2
IDbase RAG2base
Contact Dr. Anna Villa
Address CNR-ITB Via Fratelli Cervi 93, 20090 Segrate (MI), Italy
Telephone +39-02-26422636
Fax +39-02-26422660
Email anna.villa@itb.cnr.it
URL www.itba.mi.cnr.it
Method Direct sequencing
Frequency Weekly
Samples 20
Price Free
//
Disease CD3gamma deficiency
Accession I0024
Date 19-Jan-2000 (Rel. 1, Created)
Date 10-Mar-2006 (Last updated)
IDR fact file FF21.xml
OMIM 186740
Gene CD3G
IDbase CD3Gbase
Contact Dr. Jose R. Regueiro
Address Inmunologia, Facultad De Medicina, Universidad
Address Complutense de Madrid, 28040 Madrid, Spain
Telephone +34 913 941 642
Fax +34 913 941 641
Email regueiro@med.ucm.es
URL http://www.ucm.es/info/inmuno/regueiro.htm
Method Direct sequencing, CD3 haplotype segregation
Frequency Seldom
Turnaround 1 month
Samples 3/year
Price 300 EUR
Comment A TCR/CD3 expression impairment in otherwise
Comment phenotypically normal (CD2+)CD4+ and CD8 bright T
Comment lymphocytes, or a severe T lymphocytopenia should be
Comment ascertained.
//
Disease X-linked hyper-IgM syndrome (CD40L deficiency)
Accession I0025
Date 23-Mar-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF16.xml
OMIM 308230
Gene TNFSF5
IDbase TNFSF5base
Contact Dr. Ma. Cruz Garcia Rodriguez
Address Unidad de Inmunologia, Hospital La Paz, Paseo de
Address la Castellana 261, 28046 Madrid, Spain
Telephone +34-91-7277095
Fax +34-91-7277095
Email mcruzgarcia@hulp.insalud.es
Method SSCP, Direct sequencing
Frequency Whenever required
Samples 2 samples per year
Prices 300 EUR/patient 112/carrier
Comment Patient samples are only accepted for analysis after
Comment prior consultation and submission of clinical and
Comment laboratory data. Fresh blood wanted.
//
Disease X-linked agammaglobulinemia (XLA)
Accession I0026
Date 23-Mar-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF22.xml
OMIM 300300
Gene BTK
IDbase BTKbase
Contact Dr. Ma. Cruz Garcia Rodriguez
Address Unidad de Inmunologia, Hospital Universitario La
Address Paz, Paseo de la Castellana 261, 28046 Madrid, Spain
Telephone +34-91-7277095
Fax +34-91-7277095
Email mcruzgarcia@hulp.insalud.es
Method Direct sequencing; SSCP
Frequency Weekly
Samples 12 patients /year
Prices 482 EUR/patient, 180 EUR/carrier
Comment Patient samples are only accepted for analysis after
Comment prior consultation and submission of clinical and
Comment laboratory data. Fresh blood wanted.
Comment do their molecular diagnosis and family carriers.
//
Disease X-linked agammaglobulinemia (XLA)
Accession I0027
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF22.xml
OMIM 300300
Gene BTK
IDbase BTKbase
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Email vandongen@immu.fgg.eur.nl
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after
Comment prior consultation and exchance of clinical and
Comment laboratory data. Fresh blood wanted.
//
Disease X-linked hyper-IgM syndrome (CD40L deficiency)
Accession I0028
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF16.xml
OMIM 308230
Gene TNFSF5
IDbase TNFSF5base
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Email vandongen@immu.fgg.eur.nl
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted.
//
Disease X-linked SCID(gammac-chain deficiency)
Accession I0029
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF8.xml
OMIM 300400
Gene IL2RG
IDbase IL2RGbase
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Email vandongen@immu.fgg.eur.nl
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted.
//
Disease JAK3 deficiency
Accession I0030
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF9.xml
OMIM 600173
Gene JAK3
IDbase JAK3base
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Email vandongen@immu.fgg.eur.nl
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted.
//
Disease RAG1 deficiency
Accession I0031
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF2.xml
OMIM 179615
Gene RAG1
IDbase RAG1base
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Email vandongen@immu.fgg.eur.nl
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted.
//
Disease RAG2 deficiency
Accession I0032
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF3.xml
OMIM 179616
Gene RAG2
IDbase RAG2base
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Email vandongen@immu.fgg.eur.nl
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted
//
Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Accession I0033
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF71.xml
OMIM 300392
Gene WAS
IDbase WASbase
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Email vandongen@immu.fgg.eur.nl
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted.
//
Disease Kappa light chain deficiency
Accession I0034
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF65.xml
OMIM 147200
Gene IGKC
IDbase IL2RGbase
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Email vandongen@immu.fgg.eur.nl
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted.
//
Disease Ig heavy chain deletion
Accession I0035
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF27.xml
OMIM 147020
Gene IGLL1
IDbase IGLL1base
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted.
//
Disease IFNgamma-receptor 1 deficiency
Accession I0036
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF44.xml
OMIM 107470
Gene IFNGR1
IDbase IFNGR1base
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Price 550 EUR per gene
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted.
//
Disease ALPS type Ia (defective CD95)
Accession I0037
Date 24-May-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF36.xml
OMIM 601859
Gene TNFRSF6
IDbase TNFRSF6base
Contact Prof. J.J.M. van Dongen
Address Dept.of Immunology, Erasmus University Rotterdam, POB 1738
Address 3000 DR Rotterdam, The Netherlands
Telephone +31-10-4088094
Fax +31-10-4089456
Method Direct sequencing; SSCP + Heteroduplex analysis
Frequency 2 per week
Turnaround 3 months
Price 550 EUR per gene
Comment Patient samples are only accepted for analysis after prior
Comment consultation and exchange of clinical and laboratory data.
Comment Fresh blood wanted.
//
Disease X-linked chronic granulomatous disease
Accession I0038
Date 30-May-2000 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF38.xml
OMIM 300481
Gene CYBB
IDbase CYBBbase
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Direct sequencing
Frequency 6 times per year
Turnaround about 4 weeks
Samples about 30
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
Comment Preferably also Western Blot to establish X-CGD
//
Disease Autosomal recessive CGD p47 phox
Accession I0039
Date 30-May-2000 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF40.xml
OMIM 608512
Gene NCF1
IDbase NCF1base
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Other; gene scan
Frequency on request
Turnaround about 2 weeks
Samples about 20 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
Comment Preferably also Western Blot to establish p47-CGD.
//
Disease Autosomal recessive CGD p22 phox
Accession I0040
Date 30-May-2000 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF39.xml
OMIM 608508
Gene CYBA
IDbase CYBAbase
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Direct sequencing
Frequency on request
Turnaround about 4 weeks
Samples 3-5 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
Comment Preferably also Western Blot to establish p22-CGD.
//
Disease Autosomal recessive CGD p67 phox
Accession I0041
Date 30-May-2000 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF41.xml
OMIM 608515
Gene NCF2
IDbase NCF2base
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Direct sequencing
Frequency on request
Turnaround about 4 weeks
Samples 3-5 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
Comment Preferably also Western Blot to establish p67-CGD.
//
Disease Leukocyte adhesion deficiency 1
Accession I0042
Date 30-May-2000 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF42.xml
OMIM 600065
Gene ITGB2
IDbase ITGB2base
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Direct sequencing
Frequency on request
Turnaround about 4 weeks
Samples 2-3 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
Comment FACS analysis to establish LAD-1.
//
Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Accession I0044
Date 20-Nov-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF71.xml
OMIM 300392
Gene WAS
IDbase WASbase
Contact Dr. Alfons Meindl
Address Abt. fur Med. Genetik der LMU Muenchen Goethestr.
Address 29, 80336 Muenchen, Germany
Telephone +089-5160-4467
Fax +089-5160-4780
Email alfons@pedgen.med.uni-muenchen.de
Contact Dr. M. Albert/Prof. B. Belohradsky
Address Dr. V. Haunersches, Kinderspital der LMU Muenchen,
Address Lindwurmstr. 4, 80337 Muenchen, Germany
Telephone +089-5160-2811
Fax +089-5160-7743
Email michael.albert@kk-i.med.uni.muenchen.de
Method Direct sequencing
Frequency 20 / year
Turnaround 2 - 4 weeks
Samples 40 / year
Price Subject to inquiry
//
Disease X-linked lymphoproliferative syndrome(Duncan disease)
Accession I0045
Date 20-Nov-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF73.xml
OMIM 308240
Gene SH2D1A
IDbase SH2D1Abase
Contact Dr. Alfons Meindl
Address Abt. fur Med. Genetik der LMU Muenchen,
Address Goethestr. 29, 80336 Muenchen, Germany
Telephone +089-5160-4467
Fax +089-5160-4780
Email alfons@pedgen.med.uni-muenchen.de
Contact Dr. M. Albert/Prof. B. Belohradsky
Address Dr. V. Haunersches, Kinderspital der LMU Muenchen,
Address Lindwurmstr. 4, 80337 Muenchen, Germany
Telephone +089-5160-2811
Fax +089-5160-7743
Email michael.albert@kk-i.med.uni.muenchen.de
Method Direct sequencing
Frequency 5 / year
Turnaround 2 - 4 weeks
Samples 10 / year
Price Subject to inquiry
//
Disease X-linked agammaglobulinemia (XLA)
Accession I0046
Date 20-Nov-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF22.xml
OMIM 300300
Gene BTK
IDbase BTKbase
Contact Dr. Alfons Meindl
Address Abt. fur Med. Genetik der LMU Muenchen,
Address Goethestr. 29, 80336 Muenchen, Germany
Telephone +089-5160-4467
Fax +089-5160-4780
Email alfons@pedgen.med.uni-muenchen.de
Contact Dr. M. Albert/Prof. B. Belohradsky
Address Dr. V. Haunersches, Kinderspital der LMU Muenchen,
Address Lindwurmstr. 4, 80337 Muenchen, Germany
Telephone +089-5160-2811
Fax +089-5160-7743
Email michael.albert@kk-i.med.uni.muenchen.de
Method Direct sequencing
Frequency 20 / year
Turnaround 2 - 4 weeks
Samples 40 / year
Price Subject to inquiry
//
Disease Osteopetrosis
Accession I0047
Date 27-Nov-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF157.xml
OMIM 604592
Gene TCIRG1
IDbase TCIRG1base
Contact Dr. Anna Villa
Address ITBA, via Cervi 93, 20090 Segrate (MI), Italy
Telephone +39-02-26422636
Fax +39-02-26422660
Email villa@itba.mi.cnr.it
Method Direct sequencing; SSCP
Frequency Every day
Turnaround Around 1 per week
Samples Over 30
//
Disease ZAP70 deficiency
Accession I0048
Date 28-Nov-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF62.xml
OMIM 176947
Gene ZAP70
IDbase ZAP70base
Contact Dr. Naomi Taylor
Address Institut de Genetique Moleculaire, 1919 Route de
Address Mende, Montpellier, 34293 France
Telephone +33-4-67613628
Fax +33-4-67040231
Email taylor@igm.cnrs-mop.fr
Method Direct sequencing; Western blot analysis
Frequency On demand
Turnaround 1 week for blot
Samples 5
Price None
Comment Most patients with ZAP-70 deficiency can be
Comment identified by a lack of protein expression.
//
Disease p56 Lck deficiency
Accession I0049
Date 28-Nov-2000 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF137.xml
OMIM 153390
Gene LCK
Contact Dr. Naomi Taylor
Address Institut de Genetique Moleculaire, 1919 Route de
Address Mende, Montpellier, 34293 France
Telephone +33-4-67613628
Fax +33-4-67040231
Email taylor@igm.cnrs-mop.fr
Method Direct sequencing; Western blot analysis
Frequency On demand
Turnaround 1 week for blot
Samples 5
Price None
//
Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Accession I0050
Date 05-Apr-2001 (Rel. 1, Created)
Date 19-Oct-2005 (Last updated)
IDR fact file FF71.xml
OMIM 300392
Gene WAS
IDbase WASbase
Contact Dr. Tadashi Ariga
Address Dep. of Pediatrics, Hokkaido University Graduate
Address School of Medicine, N15, W-7, Kita-ku, Sapporo,
Address Japan
Telephone +81-11-716-1161
Fax +81-11-706-7898
Email tada-ari@med.hokudai.ac.jp
Method Direct sequencing
Frequency 1 per month
Turnaround 1 week
Samples 5-10
Price Free
//
Disease lambda5 surrogate light-chain deficiency
Accession I0051
Date 05-Apr-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF27.xml
OMIM 147020
Gene IGLL1
IDbase IGLL1base
Contact Dr. Lennart Hammarstrom
Address Klinisk Immunologi,F79 Huddinge University Hospital
Address SE-141 86 Stockholm, Sweden
Telephone +46-8-6089115
Fax +46-8-58581390
Email Lennart.Hammarstrom@labmed.ki.se
Method PFGE
Frequency On demand
Samples 5-10 per year
Price Not performed on commercial bases
//
Disease X-linked chronic granulomatous disease
Accession I0052
Date 18-May-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF38.xml
OMIM 306400
Gene CYBB
IDbase CYBBbase
Contact Dr. Andrew R Cross
Address The Scripps Research Institute, MEM-241, 10550,
Address North Torrey Pines Road, La Jolla, CA 92037, USA
Telephone 010-858-784-8808
Fax 010-858-784-8890
Email scross@scripps.edu
Method Direct sequencing
Frequency As needed
Turnaround 2-4 weeks
Samples 15
Price Shipping cost only
Comment This analysis is performed on a research basis only.
//
Disease Autosomal recessive CGD p22 phox
Accession I0053
Date 18-May-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF39.xml
OMIM 233690
Gene CYBA
IDbase CYBAbase
Contact Dr. Andrew R Cross
Address The Scripps Research Institute, MEM-241, 10550,
Address North Torrey Pines Road, La Jolla, CA 92037, USA
Telephone 010-858-784-8808
Fax 010-858-784-8890
Email scross@scripps.edu
Method Direct sequencing
Frequency As needed
Turnaround 2-4 weeks
Samples 5
Price Shipping cost only
Comment This analysis is performed on a research basis
Comment only.
//
Disease Autosomal recessive CGD p47 phox
Accession I0054
Date 18-May-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF40.xml
OMIM 233700
Gene NCF1
IDbase NCF1base
Contact Dr. Andrew R Cross
Address The Scripps Research Institute, MEM-241, 10550
Address North Torrey Pines Road, La Jolla, CA 92037, USA
Telephone 010-858-784-8808
Fax 010-858-784-8890
Email scross@scripps.edu
Method Direct sequencing
Frequency As needed
Turnaround 2-4 weeks
Samples 15
Price Shipping cost only
Comment This analysis is performed on a research basis only.
//
Disease Autosomal recessive CGD p67 phox
Accession I0055
Date 18-May-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF42.xml
OMIM 233710
Gene NCF2
IDbase NCF2base
Contact Dr. Andrew R Cross
Address The Scripps Research Institute, MEM-241, 10550
Address North Torrey Pines Road, La Jolla, CA 92037, USA
Telephone 010-858-784-8808
Fax 010-858-784-8890
Email scross@scripps.edu
Method Direct sequencing
Frequency As needed
Turnaround 2-4 weeks
Samples 5
Price Shipping cost only.
Comment This analysis is performed on a research basis only.
//
Disease X-linked agammaglobulinemia
Accession I0056
Date 18-May-2001 (Rel. 1, Created)
Date 20-Oct-2005 (Last updated)
IDR fact file FF22.xml
OMIM 300300
Gene BTK
IDbase BTKbase
Contact Dr. Toshio Miyawaki
Address Department of Pediatrics, Faculty of Medicine,
Address University of Toyama, 2630 Sugitani,
Address Toyama 930-0194, Japan
Telephone +81-76-434-7310
Fax +81-76-434-5029
Email toshio65@ms.toyama-mpu.ac.jp
Method Direct sequencing; Flow cytometry
Frequency Daily
Turnaround 2 Days
Samples 40 samples
Price No charge
Comment For flow cytometry analysis, 10 ml of heparinized venous
Comment blood is required and it should be transferred to the
Comment laboratory within a few days. For PCR-SSCP and direct
Comment sequencing, at least 5 micrograms of DNA is required.
//
Disease X-linked lymphoproliferative syndrome(Duncan disease)
Accession I0057
Date 18-May-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF73.xml
OMIM 308240
Gene SH2D1A
IDbase SH2D1Abase
Contact Dr. Toshio Miyawaki
Address Department of Pediatrics, Faculty of Medicine,
Address University of Toyama, 2630 Sugitani,
Address Toyama 930-0194, Japan
Telephone +81-76-434-7310
Fax +81-76-434-5029
Email toshio65@ms.toyama-mpu.ac.jp
Method Direct sequencing; Flow cytometry
Frequency Daily
Turnaround 2 days
Samples 20 samples
Price No charge
Comment For flow cytometry analysis, 10 ml of haparinized venous
Comment blood is required and it should be transferred to the
Comment laboratory within a few days. For PCR-SSCP and direct
Comment sequencing, at least 5 micrograms of DNA is required.
//
Disease X-linked lymphoproliferative syndrome(Duncan disease)
Accession I0058
Date 18-May-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF73.xml
OMIM 308240
Gene SH2D1A
IDbase SH2D1Abase
Contact MS. Carrie E Haverty
Address Center for Human Genetics, 700 Albany Street, Suite 408,
Address Boston, MA 02118, USA
Telephone +617-6387083
Fax +617-6387092
Email chaverty@bu.edu
URL http:www.bumc.bu.edu/hg
Method Flow cytometry
Frequency On demand
Turnaround 4 - 6 months
Samples Around 20 - 25 samples
Price 895 USD
//
Disease X-linked SCID(gammac-chain deficiency)
Accession I0059
Date 22-Oct-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF8.xml
OMIM 300400
Gene IL2RG
IDbase IL2RGbase
Contact Dr. Ma. Cruz Garcia Rodriguez
Address Unidad de Inmunologia Hospital Universitario La
Address Paz, 28046 Madrid, Spain
Telephone +34-91-7277238/91-7277095
Fax +34-91-7277095
Email mcruzgarcia@hulp.insalud.es
Method Direct sequencing; SSCP
Frequency on request
Turnaround 1 month
Samples 4 / year
Price 300 EUR/patient,150 EUR/carrier
Comment Patient samples are only accepted for analysis after prior
Comment consultation and submission of clinical and laboratory
Comment data. Fresh blood wanted or purified DNA from EDTA blood.
//
Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Accession I0060
Date 14-Nov-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF71.xml
OMIM 300392
Gene WAS
IDbase WASbase
Contact Prof. Yu-lung Lau/Mr. Chan Koon Wing
Address Department of Paediatrics and Adolescent of Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam,
Address Hong Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
Method Direct sequencing
Frequency 4 times/year
Turnaround 3-6 weeks
Samples 16 samples/year
Price 500 USD
//
Disease X-linked agammaglobulinemia (XLA)
Accession I0061
Date 29-Jan-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF22.xml
OMIM 300300
Gene BTK
IDbase BTKbase
Contact Prof. Yu-lung Lau/Miss Susanna Fok
Address Department of Paediatrics and Adolescent of Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam,
Address Hong Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
Method Direct sequencing
Frequency 4 times/year
Turnaround 3-6 weeks
Samples 16 samples/years
Price 500 USD
//
Disease X-linked lymphoproliferative syndrome(Duncan disease)
Accession I0062
Date 28-Feb-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF73.xml
OMIM 308240
Gene SH2D1A
IDbase SH2D1Abase
Contact Prof. Yu-lung Lau/Mr. Chan Koon Wing
Address Department of Paediatrics and Adolescent of Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam,
Address Hong Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
Method Direct sequencing
Frequency 4 times/year
Turnaround 3-6 weeks
Samples 16 samples/year
Price 250 USD
//
Disease RAG1 deficiency
Accession I0063
Date 10-Jun-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF2.xml
OMIM 179615
Gene RAG1
IDbase RAG1base
Contact Dr. Ma.Cruz Garcia Rodriguez
Address Unidad de Inmunologia, Hospital Universitario la Paz,
Address 28046 Madrid, Spain
Telephone +34-91 7277095/91 7277238
Fax +34-91 7277095
Email mcruzgarcia@hulp.insalud.es
Method Direct sequencing; SSCP
Frequency on request
Turnaround 1 month
Samples 4/year
Price 400 EUR
Comment Patient samples are only accepted for analysis after
Comment prior consultation and submission of clinical and
Comment laboratory data. Fresh blood wanted or purified DNA from
Comment EDTA blood
//
Disease RAG2 deficiency
Accession I0064
Date 10-Jun-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF3.xml
OMIM 179616
Gene RAG2
IDbase RAG2base
Contact Dr. Ma.Cruz Garcia Rodriguez
Address Unidad de Inmunologia, Hospital Universitario La Paz,
Address 28046 Madrid, Spain
Telephone +34-91 7277095/91 7277238
Fax +34-91 7277095
Email mcruzgarcia@hulp.insalud.es
Method Direct sequencing; SSCP
Frequency on request
Turnaround 1 month
Samples 4/year
Price 400 EUR
Comment Patient samples are only accepted for analysis after
Comment prior consultation and submission of clinical and
Comment laboratory data. Fresh blood wanted or purified DNA from
Comment EDTA blood
//
Disease CVID, ICOS-deficiency
Accession I0065
Date 23-Oct-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF116.xml
OMIM 240500
Gene ICOS
IDbase ICOSbase
Contact Dr. B. Grimbacher
Address Medical University of Freiburg, Hugstetter Str. 55,
Address 79106 Freiburg, Germany
Telephone +49-761-270-3401
Fax +49-761-270-3531
Email bgrimbac@medsch.ucl.ac.uk
Method Direct sequencing
Frequency weekly
Turnaround 4 weeks
Samples Approx. 160
Price 250 Euro
Comment EDTA blood (50 EUR extra charge)or genomic DNA requested.
//
Disease X-linked agammaglobulinemia (XLA)
Accession I0066
Date 05-Dec-2002 (Rel. 1, Created)
Date 19-Sep-2007 (Last updated)
IDR fact file FF22.xml
OMIM 300300
Gene BTK
IDbase BTKbase
Contact Dr. Lotta Asplund
Address Clinical Research Center at Novum, level 5,lab 514,
Address Karolinska Institute, Halsovagen 7, SE- 14157 Huddinge,
Address Sweden
Telephone +46-8-58583654, +46-8-58583657
Fax +46-8-58583650
Email Lotta.Asplund@ki.se
Method Direct sequencing
Frequency Upon receipt; Turnaround: aim is 6 weeks
Samples 25/year
Price 450 EUR/patient, 175 Eur/putative carrier
Comment More than 300 patient samples analysed for BTK mutations
Comment to date
//
Disease RAG1 deficiency
Accession I0067
Date 05-Dec-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF2.xml
OMIM 179615
Gene RAG1
IDbase RAG1base
Contact Dr. Jean-Pierre de Villartay
Address INSERM U429 Hopital Necker, 149 rue de Sevres
Address 75015 Paris, France
Telephone +33-1-44495081
Fax +33-1-42730640
Email devillar@necker.fr
Method Direct sequencing; µsat in consaguineous families
//
Disease RAG2 deficiency
Accession I0068
Date 05-Dec-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF3.xml
OMIM 179616
Gene RAG2
IDbase RAG2base
Contact Dr. Jean-Pierre de Villartay
Address INSERM U429 Hopital Necker,
Address 149 rue de Sevres 75015 Paris, France
Telephone +33-1-44495081
Fax +33-1-42730640
Email devillar@necker.fr
Method Direct sequencing; µsat in consaguineous families
//
Disease Artemis deficiency
Accession I0069
Date 05-Dec-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF5.xml
OMIM 605988
Gene DCLRE1C
IDbase DCLRE1Cbase
Contact Dr. Jean-Pierre de Villartay
Address INSERM U429 Hopital Necker,
Address 149 rue de Sevres 75015 Paris, France
Telephone +33-1-44495081
Fax +33-1-42730640
Email devillar@necker.fr
Method Direct sequencing; µsat in consaguineous families
//
Disease Familial hemophagocytic lymphohistiocytosis type 2
Accession I0070
Date 10-Dec-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF105.xml
OMIM 603552
Gene PRF1
IDbase PRF1base
Contact Dr. de Saint Basile
Address Hopital Necker Enfants Malades, 149 rue de Sevres, 75015
Address Paris, France
Telephone +33-1-44495080
Fax +33-1-42730640
Email sbasile@necker.fr
Method Direct sequencing; protein expression
Price 305 EUR
Comment An appointment must be fix prior to sample sending
//
Disease Griscelli syndrome
Accession I0071
Date 10-Dec-2002 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF80.xml
OMIM 214450
Gene MYO5A
IDbase MYO5Abase
Contact Dr. de Saint Basile
Address Hopital Necker Enfants Malades, 149 rue de Sevres,
Address 75015 Paris, France
Telephone +33-1-44495080
Fax +33-1-42730640
Email sbasile@necker.fr
Method Direct sequencing; Hair shaft microscopic analysis
Price 305 EUR
Comment An appointment must be fix prior to sample sending
//
Disease X-linked chronic granulomatous disease
Accession I0072
Date 14-Jan-2003 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF38.xml
OMIM 306400
Gene CYBB
IDbase CYBBbase
Contact Prof. Yu-lung Lau/Miss Priscilla Mak
Address Department of Paediatrics and Adolescent Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam,
Address Hong Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
Method Direct sequencing
Frequency 4 times/year
Turnaround 3-6 weeks
Samples 16 samples/years
Price 500 USD
//
Disease Cytidine Deaminase (AID) deficiency
Accession I0073
Date 27-Feb-2003 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF17.xml
OMIM 605257
Gene AICDA
IDbase AICDAbase
Contact Dr. Ma. Cruz Garcia Rodriguez
Address Unidad de Inmunologia, Hospital la Paz, Paseo de la
Address Castellana 261, 28046 Madrid, Spain
Telephone +34-91-7277238
Fax +34-91-7277095
Email mcruzgarcia.hulp@salud.madrid.org
Method Direct sequencing
Frequency 3 times /year
Turnaround 5-6 weeks
Samples 6 samples /year
Price 300 EUR
//
Disease SCID with Interleukin 7 receptor alfa deficiency
Accession I0074
Date 26-Feb-2003 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF106.xml
OMIM 146661
Gene IL7R
IDbase IL7Rbase
Contact Dr. Ma. Cruz Garcia Rodriguez
Address Unidad de Inmunologia, Hospital Universitario la
Address Paz, Paseo de la Castellana 261, 28046 Madrid, Spain
Telephone +34-91-7277238
Fax +34-91-7277095
Email mcruzgarcia.hulp@salud.madrid.org
Method Direct sequencing
Frequency 4 times / year
Turnaround 5-6 weeks
Samples 4 samples / year
Price 400 EUR
//
Disease X-linked severe combined immunodeficiency
Accession I0075
Date 27-Feb-2003 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR factfile FF8.xml
OMIM 300400
Gene IL2RG
IDbase IL2Rbase
Contact Jennifer Puck
Address NHGRI/NIH, Building 49 Room 4A14, 49 Convent Dr.
Address Bethesda MD, 20892-4442 USA
Telephone 301-402-2194
Fax 301-402-4929
Email jpuck@nhgri.nih.gov
Method Direct sequencing
Frequency as needed
Turnaround 2-4 weeks
Samples 50 SCID
Price No charge because work is on research protocol
Comment Testing is done as part of a research protocol only.
Comment Eligibility will be determined from screening data that
Comment must be submitted prior to enrollnment (pedigree and
Comment clinical, lab data). Also, Dr. Puck's study consent form
Comment must be signed by subject and submitted with sample. Report
Comment is sent to referring provider. Dr. Puck's lab is certified
Comment and licensed under US CLIA. (Clinical Laboratory Comment
Comment Improvement Act).
//
Disease Autoimmune lymphoproliferative syndrome (ALPS)
Accession I0076
Date 27-Feb-2003 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR factfile FF36.xml
OMIM 601859
Gene TNFRSF6
IDbase TNFRSF6base
Contact Jennifer Puck
Address NHGRI/NIH, Building 49 Room 4A14, 49 Convent Dr.,
Address Bethesda MD, 20892-4442 USA
Telephone 301-402-2194
Fax 301-402-4929
Email jpuck@nhgri.nih.gov
Method Direct sequencing
Frequency as needed
Turnaround 2-4 weeks
Samples 60 ALPS
Price No charge because work is on research protocol.
Comment Testing is done as part of a research protocol only.
Comment Eligibility will be determined from screening data that
Comment must be submitted prior to enrollnment (pedigree and
Comment clinical, lab data). Also, Dr. Puck's study consent form
Comment must be signed by subject and submitted with sample. Report
Comment is sent to referring provider. Dr. Puck's lab is certified
Comment and licensed under US CLIA (Clinical Laboratory Improvement
Comment Act).
//
Disease Leukocyte adhesion deficiency 1
Accession I0077
Date 14-Feb-2003 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF8.xml
OMIM 600065
Gene ITGB2
IDbase ITGB2base
Contact Prof. Yu-lung Lau/Mr.Chan Koon Wing
Address Department of Paediatrics and Adolescent Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam,
Address Hong Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
Method Direct sequencing
Frequency 4 times/year
Turnaround 3-6 weeks
Samples 16 samples/years
Price 500 USD
//
Disease X-linked hyper-IgM syndrome (CD40L deficiency)
Accession I0078
Date 29-May-2003 (Rel. 1, Created)
Date 16-Mar-2006 (Last updated)
IDR fact file FF16.xml
OMIM 308230
Gene TNFSF5
IDbase TNFSF5base
Contact Richard Wenstrup, MD
Address Cytogenetics and Molecular Genetics Laboratory, 3333 Burnet
Address Ave. NRB 1005, Cincinnati, OH 45229,USA
Telephone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
URL www.cincinnatichildrens.org/molecular-genetics/
Method Direct sequencing
Frequency as needed
Turnaround 1 month
Price call for price
Comment Sequencing of entire coding region of CD40 ligand gene.
Comment Indications: Confirmation of diagnosis, carrier testing
Comment and prenatal diagnosis (with prior arrangement only).
//
Disease X-linked SCID(gammac-chain deficiency)
Accession I0079
Date 29-May-2003 (Rel. 1, Created)
Date 16-Mar-2006 (Last updated)
IDR fact file FF8.xml
OMIM 300400
Gene IL2RG
IDbase IL2RGbase
Contact Richard Wenstrup, MD
Address Cytogenetics and Molecular Genetics Laboratory, 3333 Burnet
Address Ave. NRB 1005, Cincinnati, OH 45229,USA
Telephone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
URL www.cincinnatichildrens.org/molecular-genetics/
Method Direct sequencing
Frequency as needed
Turnaround 1 month
Price call for price
Comment Sequencing of entire coding region of IL2RG.
Comment Indications: Confirmation of diagnosis, carrier
Comment detection, and prenatal diagnosis (by prior arrangement
Comment only).
//
Disease X-linked lymphoproliferative syndrome(Duncan disease)
Accession I0080
Date 29-May-2003 (Rel. 1, Created)
Date 16-Mar-2006 (Last updated)
IDR fact file FF73.xml
OMIM 308240
Gene SH2D1A
IDbase SH2D1Abase
Contact Richard Wenstrup, MD
Address Cytogenetics and Molecular Genetics Laboratory, 3333 Burnet
Address Ave. NRB 1005, Cincinnati, OH 45229,USA
Telephone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
URL www.cincinnatichildrens.org/molecular-genetics/
Method Direct sequencing
Frequency as needed
Turnaround 1 month
Comment Sequencing of the entire coding region of SH2D1A.
Comment Indications: confirmation of diagnosis, carrier
Comment detection, and prenatal diagnosis (by prior arrangement
Comment only). Sequencing will not detect large deletions found
Comment in about 25% of female carriers.
//
Disease Familial haemophagocytic lymphohistiocytosis type 2
Accession I0081
Date 29-May-2003 (Rel. 1, Created)
Date 16-Mar-2006 (Last updated)
IDR fact file FF105.xml
OMIM 170280
Gene PRF1
IDbase PRF1base
Contact Richard Wenstrup, MD
Address Cytogenetics and Molecular Genetics Laboratory, 3333 Burnet
Address Ave. NRB 1005, Cincinnati, OH 45229,USA
Telephone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
URL www.cincinnatichildrens.org/molecular-genetics/
Method Direct sequencing
Frequency as needed
Turnaround 1 month
Comment Sequencing of entire coding region of PRF 1. Sequencing
Comment identifies mutations in about 30% of familial HLH
Comment worldwide. Indications: Confirmation of diagnosis,
Comment carrier testing and prenatal diagnosis (by prior
Comment arrangement only).
//
Disease Osteopetrosis
Accession I0082
Date 12-Aug-2003 (Rel. 1, Created)
Date 20-Oct-2005 (Last updated)
IDR fact file FF157
OMIM 604592
Gene TCIRG1
IDbase TCIRG1base
Contact PD Dr. Ansgar Schulz
Address Universitätsklinik fur Kinder und Jugendmdizin,
Address Eythstrasse 24, D-89075 Ulm, Germany
Telephone (+49) 731 500 27747
Fax (+49) 731 500 26685
Email ansgar.schulz@uni-ulm.de
Method Direct sequencing
Frequency weekly
Turnaround 4 weeks
Samples 20
Price for free
Comment CLCN7 and TCIRG1 will be analyzed
//
Disease Ataxia-telangiectasia
Accession I0083
Date 05-Apr-2001 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF87.xml
OMIM 208900
Gene ATM
Contact Dr. Lennart Hammarstrom
Address Klinisk Immunology, F79 Huddinge University Hospital,
Address SE-141 86 Stockholm, Sweden
Telephone (+46)8 608 9115
Fax (+46)8 585 81390
Email Lennart.Hammarstrom@labmed.ki.se
Method SSCP
Frequency on demand
Turnaround 20-40 per year
Samples not performed on commercial bases
Price not performed on commercial bases
//
Disease RAG1 deficiency
Accession I0084
Date 03-May-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF2.xml
OMIM 179615
Gene RAG1
IDbase RAG1base
Contact Prof. Yu-lung Lau/Mr.Chan Koon Wing
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam,
Address Hong Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
Method Direct sequencing
Frequency 4 times/year
Turnaround 3-6 weeks
Samples 16 samples/years
Price 250 USD
//
Disease RAG2 deficiency
Accession I0085
Date 03-May-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF3.xml
OMIM 179616
Gene RAG2
IDbase RAG2base
Contact Prof. Yu-lung Lau/Mr.Chan Koon Wing
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam,
Address Hong Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
Method Direct sequencing
Frequency 4 times/year
Turnaround 3-6 weeks
Samples 16 samples/years
Price 250 USD
//
Disease X-linked SCID(gammac-chain deficiency)
Accession I0086
Date 03-May-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF8.xml
OMIM 300400
Gene IL2RG
IDbase IL2RGbase
Contact Prof. Yu-lung Lau/Mr.Chan Koon Wing
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam,
Address Hong Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
Method Direct sequencing
Frequency 4 times/year
Turnaround 3-6 weeks
Samples 16 samples/years
Price 250 USD
//
Disease X-linked hyper-IgM syndrome (CD40L deficiency)
Accession I0087
Date 03-May-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF16.xml
OMIM 308230
Gene TNFSF5
IDbase TNFSF5base
Contact Prof. Yu-lung Lau/Miss Susanna Fok
Address Department of Paediatrics and Adolescent Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam,
Address Hong Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
Method Direct sequencing
Frequency 4 times/year
Turnaround 3-6 weeks
Samples 16 samples/years
Price USD 250
//
Disease Non-X-linked hyper-IgM syndrome
Accession I0088
Date 04-Sep-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF17.xml
OMIM 605257
Gene AICDA
IDbase AICDAbase
Contact Dr. Laszlo Marodi
Address Immunology Laboratory, Dept. of Infectology and Paediatric
Address Immunology, Univ. of Debrecen, Hungary
Telephone +36 52 416 841
Fax +36 52 430 323
Email lmarodi@jaguar.dote.hu
Method Direct sequencing
Frequency on demand
Turnaround 4 weeks
Samples 3
Price see below
Comment Price is fixed by the insurance company
//
Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Accession I0089
Date 04-Sep-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF71.xml
OMIM 300392
Gene WAS
IDbase WASbase
Contact Dr. Laszlo Marodi
Address Immunology Laboratory, Dept. of Infectology and Paediatric
Address Immunology, Univ. of Debrecen, Hungary
Telephone +36 52 416 841
Fax +36 52 430 323
Email lmarodi@jaguar.dote.hu
Method Direct sequencing
Frequency on demand
Turnaround 4 weeks
Samples 5
Price see below
Comment Price is fixed by the insurance company
//
Disease X-linked SCID(gammac-chain deficiency)
Accession I0090
Date 04-Sep-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF8.xml
OMIM 300400
Gene IL2RG
IDbase IL2RGbase
Contact Dr. Laszlo Marodi
Address Immunology Laboratory, Dept. of Infectology and Paediatric
Address Immunology, Univ. of Debrecen, Hungary
Telephone +36 52 416 841
Fax +36 52 430 323
Email lmarodi@jaguar.dote.hu
Method Direct sequencing
Frequency on demand
Turnaround 4 weeks
Samples 5
Price see below
Comment Price is fixed by the insurance company
//
Disease X-linked hyper-IgM syndrome (CD40L deficiency)
Accession I0091
Date 04-Sep-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF16.xml
OMIM 308230
Gene TNFSF5
IDbase TNFSF5base
Contact Dr. Laszlo Marodi
Address Immunology Laboratory, Dept. of Infectology and Paediatric
Address Immunology, Univ. of Debrecen, Hungary
Telephone +36 52 416 841
Fax +36 52 430 323
Email lmarodi@jaguar.dote.hu
Method Direct sequencing
Frequency on demand
Turnaround 4 weeks
Samples 5
Price see below
Comment Price is fixed by the insurance company
//
Disease X-linked lymphoproliferative syndrome (Duncan disease)
Accession I0092
Date 04-Sep-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF73.xml
OMIM 308240
Gene SH2D1A
IDbase SH2D1Abase
Contact Dr. Laszlo Marodi
Address Immunology Laboratory, Dept. of Infectology and Paediatric
Address Immunology, Univ. of Debrecen, Hungary
Telephone +36 52 416 841
Fax +36 52 430 323
Email lmarodi@jaguar.dote.hu
Method Direct sequencing
Frequency on demand
Turnaround 4 weeks
Samples 5
Price see below
Comment Price is fixed by the insurance company
//
Disease Shwachman syndrome
Accession I0093
Date 04-Sep-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF84.xml
OMIM 260400
Gene SBDS
IDbase SBDSbase
Contact Dr. Laszlo Marodi
Address Immunology Laboratory, Dept. of Infectology and Paediatric
Address Immunology, Univ. of Debrecen, Hungary
Telephone +36 52 416 841
Fax +36 52 430 323
Email lmarodi@jaguar.dote.hu
Method Direct sequencing
Frequency on demand
Turnaround 4 weeks
Samples 5
Price see below
Comment Price is fixed by the insurance company
//
Disease SCID with Interleukin 7 receptor alfa deficiency
Accession I0094
Date 04-Sep-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF106.xml
OMIM 146661
Gene IL7R
IDbase IL7Rbase
Contact Dr. Laszlo Marodi
Address Immunology Laboratory, Dept. of Infectology and Paediatric
Address Immunology, Univ. of Debrecen, Hungary
Telephone +36 52 416 841
Fax +36 52 430 323
Email lmarodi@jaguar.dote.hu
Method Direct sequencing
Frequency on demand
Turnaround 4 weeks
Samples 5
Price see below
Comment Price is fixed by the insurance company
//
Disease APECED
Accession I0095
Date 04-Sep-2005 (Rel. 1, Created)
Date 07-Sep-2005 (Last updated)
IDR fact file FF72.xml
OMIM 607358
Gene AIRE
IDbase AIREbase
Contact Dr. Laszlo Marodi
Address Immunology Laboratory, Dept. of Infectology and Paediatric
Address Immunology, Univ. of Debrecen, Hungary
Telephone +36 52 416 841
Fax +36 52 430 323
Email lmarodi@jaguar.dote.hu
Method Direct sequencing
Frequency on demand
Turnaround 4 weeks
Samples 5
Price see below
Comment Price is fixed by the insurance company
//
Disease SCID with Interleukin 7 receptor alfa deficiency
Accession I0096
Date 15-Dec-2005 (Rel. 1, Created)
Date 15-Dec-2005 (Last updated)
IDR fact file FF106.xml
OMIM 146661
Gene IL7R
IDbase IL7Rbase
Contact Prof. Dr. G. Lahr
Address Klinik für Kinder- und Jugendmedizin, Universität Ulm,
Address Eythstr. 24, D-89075 Ulm, Germany
Telephone (+49) 731 500 27788
Fax (+49) 731 500 26685
Email ansgar.schulz@uni-ulm.de
Method Direct sequencing
Turnaround 4 weeks
Price for free
Comment In B+ SCID patients IL2RG, IL7R and JAK3 will be analyzed
Comment subsequently
//
Disease JAK3 deficiency
Accession I0097
Date 15-Dec-2005 (Rel. 1, Created)
Date 15-Dec-2005 (Last updated)
IDR fact file FF9.xml
OMIM 600173
Gene JAK3
IDbase JAK3base
Contact Prof. Dr. G. Lahr
Address Klinik für Kinder- und Jugendmedizin, Universität Ulm
Address Eythstr. 24,D-89075, Ulm, Germany
Telephone (+49) 731 500 27788
Fax (+49) 731 500 26685
Email ansgar.schulz@uni-ulm.de
Method Direct sequencing
Turnaround 4 weeks
Price for free
Comment In B+ SCID patients IL2RG, Il7R and JAK3 can be analyzed
//
Disease IL-2 receptor α-chain deficiency
Accession I0098
Date 15-Dec-2005 (Rel. 1, Created)
Date 15-Dec-2005 (Last updated)
IDR fact file FF63.xml
OMIM 147730
Gene IL2RA
IDbase IL2RAbase
Contact Prof. Dr. G. Lahr
Address Klinik für Kinder- und Jugendmedizin, Universität Ulm
Address Eythstr. 24, D-89075 Ulm, Germany
Telephone (+49) 731 500 27788
Fax (+49) 731 500 26685
Email ansgar.schulz@uni-ulm.de
Method Direct sequencing
Turnaround 2 weeks
Samples 15
Price for free
Comment In B+ SCID patients IL2RG, IL7R and JAK3 can be analyzed
//
Disease ZAP-70 deficiency
Accession I0099
Date 15-Dec-2005 (Rel. 1, Created)
Date 15-Dec-2005 (Last updated)
IDR fact file FF62.xml
OMIM 176947
Gene ZAP70
IDbase ZAP70base
Contact Prof. Dr. G. Lahr
Address Klinik für Kinder- und Jugendmedizin, Universität Ulm
Address Eythstr. 24, D-89075 Ulm, Germany
Telephone (+49) 731 500 27788
Fax (+49) 731 500 26685
Email ansgar.schulz@uni-ulm.de
Method Direct sequencing
Turnaround 4 weeks
Price for free
//
Disease X-linked hyper-IgM syndrome (CD40L deficiency)
Accession I0100
Date 15-Dec-2005 (Rel. 1, Created)
Date 15-Dec-2005 (Last updated)
IDR fact file FF16.xml
OMIM 300386
Gene TNFSF5
IDbase CD40Lbase
Contact Prof. Dr. G. Lahr
Address Klinik für Kinder- und Jugendmedizin, Universität Ulm
Address Eythstr. 24, D-89075 Ulm, Germany
Telephone (+49) 731 500 27788
Fax (+49) 731 500 26685
Email ansgar.schulz@uni-ulm.de
Method Direct sequencing
Turnaround 4 weeks
Price for free
//
Disease Familial haemophagocytic lymphohistiocytosis type 2
Accession I0101
Date 15-Dec-2005 (Rel. 1, Created)
Date 15-Dec-2005 (Last updated)
IDR fact file FF105.xml
OMIM 170280
Gene PRF1
IDbase PRF1base
Contact Prof. Dr. G. Lahr
Address Klinik für Kinder- und Jugendmedizin, Universität Ulm
Address Eythstr. 24, D-89075 Ulm, Germany
Telephone (+49) 731 500 27788
Fax (+49) 731 500 26685
Email ansgar.schulz@uni-ulm.de
Method Direct sequencing
Turnaround 4 weeks
Price for free
//
Disease IFNgamma-receptor 1 deficiency
Accession I0102
Date 15-Dec-2005 (Rel. 1, Created)
Date 15-Dec-2005 (Last updated)
IDR fact file FF44.xml
OMIM 107470
Gene IFNGR1
IDbase IFNGR1base
Contact Prof. Dr. G. Lahr
Address Klinik für Kinder- und Jugendmedizin, Universität Ulm
Address Eythstr. 24, D-89075 Ulm, Germany
Telephone (+49) 731 500 27788
Fax (+49) 731 500 26685
Email ansgar.schulz@uni-ulm.de
Method Direct sequencing
Turnaround 4 weeks
Price for free
//
Disease Immunodeficiency, polyendocrinopathy, enteropathy, X-linked
Accession I0103
Date 15-Dec-2005 (Rel. 1, Created)
Date 15-Dec-2005 (Last updated)
IDR fact file FF78.xml
OMIM 300292
Gene FOXP3
IDbase FOXP3base
Contact Prof. Dr. G. Lahr
Address Klinik für Kinder- und Jugendmedizin, Universität Ulm
Address Eythstr. 24, D-89075 Ulm, Germany
Telephone (+49) 731 500 27788
Fax (+49) 731 500 26685
Email ansgar.schulz@uni-ulm.de
Method Direct sequencing
Turnaround 4 weeks
Price for free
//
Disease WHIM (Warts, Hypogammaglobulinemia, Infections and
Disease Myelokathexis)
Accession I0104
Date 09-Mar-2006 (Rel. 1, Created)
Date 09-Mar-2006 (Last updated)
IDR fact file FF7.xml
OMIM 193670
Gene CXCR4
IDbase CXCR4base
Contact Dr. Lotta Asplund
Address Clinical Research Center at Novum, level 5,lab 514,
Address Karolinska Institute, Halsovagen 7, SE- 14157 Huddinge,
Address Sweden
Telephone +46-8-58583654, +46-8-58583657
Fax +46-8-58583650
Email Lotta.Asplund@ki.se
Method Direct sequencing
Frequency Samples are normally completed within one month
Samples Statistics not yet available
Price 200 EUR/patient, 150 Eur/family member
//
Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Accession I0105
Date 05-Apr-2006 (Rel. 1, Created)
Date 05-Apr-2006 (Last updated)
IDR fact file FF71.xml
OMIM 300392
Gene WAS
IDbase WASbase
Contact Richard Wenstrup, MD
Address Cytogenetics and Molecular Genetics Laboratory, 3333
Address Burnet Ave. NRB 1005, Cincinnati, OH 45229 USA
Telephone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
URL www.cincinnatichildrens.org/molecular-genetics
Method Direct sequencing
Frequency as needed
Turnaround 3-4 weeks
Samples 200
Price call for price
Comment Sequencing of entire coding region and exon/intron
Comment boundaries of WAS gene. Indications: confirmation of
Comment diagnosis, carrier testing and prenatal diagnosis (by prior
Comment arrangement only).
//
Disease Familial hemophagocytic lymphohistiocytosis 3
Accession I0106
Date 05-Apr-2006 (Rel. 1, Created)
Date 05-Apr-2006 (Last updated)
IDR fact file FF126.xml
OMIM 608897
Gene UNC13D
IDbase UNC13Dbase
Contact Richard Wenstrup, MD
Address Cytogenetics and Molecular Genetics Laboratory, 3333
Address Burnet Ave. NRB 1005, Cincinnati, OH 45229 USA
Telephone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
URL www.cincinnatichildrens.org/molecular-genetics
Method Direct sequencing
Frequency as needed
Turnaround 4-8 weeks
Samples 200
Price call for price
Comment Sequencing of entire coding region of Munc13-4 gene.
Comment Indications: confirmation of diagnosis, carrier testing
Comment and prenatal diagnosis (by prior arrangement only).
//
Disease ALPS type Ia (defective CD95)
Accession I0107
Date 05-Apr-2006 (Rel. 1, Created)
Date 05-Apr-2006 (Last updated)
IDR fact file FF36.xml
OMIM 601859
Gene TNFRSF6
IDbase TNFRSF6base
Contact Richard Wenstrup, MD
Address Cytogenetics and Molecular Genetics Laboratory, 3333
Address Burnet Ave. NRB 1005, Cincinnati, OH 45229 USA
Telephone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
URL www.cincinnatichildrens.org/molecular-genetics
Method Direct sequencing
Turnaround 4 weeks
Samples 50
Price call for price
Comment Sequencing of entire coding region and exon/intron
Comment boundaries of FAS gene. Indications: confirmation of
Comment diagnosis, carrier testing for medical management, prenatal
Comment diagnosis (by prior arrangement only).
//
Disease Non-X-linked hyper-IgM syndrome
Accession I0108
Date 06-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2006 (Last updated)
IDR fact file FF17.xml
OMIM 605257
Gene AICDA
IDbase AICDAbase
Contact Prof. Yu-lung Lau/Mr. Koon-Wing Chan
Address Department of Paediatrics and Adolescent Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam, Hong
Address Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
URL http://www.hku.hk/paed/
Method Direct sequencing
Turnaround 3-6 weeks
Price 250 USD
//
Disease Immunodeficiency, polyendocrinopathy, enteropathy, X-linked
Accession I0109
Date 06-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2006 (Last updated)
IDR fact file FF78.xml
OMIM 300292
Gene FOXP3
IDbase FOXP3base
Contact Prof. Yu-lung Lau/Mr. Koon-Wing Chan
Address Department of Paediatrics and Adolescent Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam, Hong
Address Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
URL http://www.hku.hk/paed/
Method Direct sequencing
Turnaround 3-6 weeks
Price 500 USD
//
Disease Interleukin-12 (IL-12) p40 deficiency
Accession I0110
Date 06-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2006 (Last updated)
IDR fact file FF46.xml
OMIM 161561
Gene IL12B
IDbase IL12Bbase
Contact Prof. Yu-lung Lau/Mr. Koon-Wing Chan
Address Department of Paediatrics and Adolescent Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam, Hong
Address Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
URL http://www.hku.hk/paed/
Method Direct sequencing
Turnaround 3-6 weeks
Price 250 USD
//
Disease Interleukin-12 receptor beta1 deficiency
Accession I0111
Date 06-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2006 (Last updated)
IDR fact file FF47.xml
OMIM 601604
Gene IL12RB1
IDbase IL12RB1base
Contact Prof. Yu-lung Lau/Mr. Koon-Wing Chan
Address Department of Paediatrics and Adolescent Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam, Hong
Address Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
URL http://www.hku.hk/paed/
Method Direct sequencing
Turnaround 3-6 weeks
Price 500 USD
//
Disease IFNgamma-receptor 1 deficiency
Accession I0112
Date 06-Jun-2006 (Rel. 1, Created)
Date 06-Jun-2006 (Last updated)
IDR fact file FF44.xml
OMIM 107470
Gene IFNGR1
IDbase IFNGR1base
Contact Prof. Yu-lung Lau/Mr. Koon-Wing Chan
Address Department of Paediatrics and Adolescent Medicine, The
Address University of Hong Kong, L7-55, Laboratory Block, Faculty
Address of Medicine Bldg, 21 Sassoon Road, Pokfulam, Hong
Address Kong
Telephone (852)28199362
Fax (852)28198142
Email paedlab@hkucc.hku.hk
URL http://www.hku.hk/paed/
Method Direct sequencing
Turnaround 3-6 weeks
Price 250 USD
//
Disease Mannose-binding lectin (protein) deficiency
Accession I0113
Date 31-Aug-2006 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF96.xml
OMIM 154545
Gene MBL2
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Direct sequencing
Frequency 10 times per year
Turnaround about 4 weeks
Samples 200 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
Comment ELISA to establish MBL deficiency.
//
Disease Glucose 6-phosphate dehydrogenase deficiency
Accession I0114
Date 31-Aug-2006 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF81.xml
OMIM 305900
Gene G6PD
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Direct sequencing
Frequency on request
Turnaround about 2 months
Samples 1-2 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
Comment G6PD enzyme assay in leukocytes to establish G6PD
Comment deficiency in leukocytes.
//
Disease C4A deficiency
Accession I0115
Date 31-Aug-2006 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF53.xml
OMIM 120810
Gene C4A
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Other; MLPA
Frequency on request
Turnaround about 1 month
Samples 10-20 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
//
Disease C4B deficiency
Accession I0116
Date 31-Aug-2006 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF54.xml
OMIM 120820
Gene C4B
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Other; MLPA
Frequency on request
Turnaround about 1 month
Samples 10-20 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
//
Disease Factor D deficiency
Accession I0117
Date 31-Aug-2006 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF98.xml
OMIM 134350
Gene DF
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Direct sequencing
Frequency on request
Turnaround about 1 month
Samples 1-2 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
Comment AP50 test to establish deficiency in alternative pathway of
Comment complement activation.
//
Disease Myeloperoxidase deficiency
Accession I0118
Date 31-Aug-2006 (Rel. 1, Created)
Date 31-Aug-2006 (Last updated)
IDR fact file FF82.xml
OMIM 606989
Gene MPO
IDbase MPObase
Contact Prof. Dirk Roos
Address Sanquin Research, Plemanlaan 125, 1066CX Amsterdam,
Address Netherlands
Telephone 31-20-5123377
Fax 31-20-5123474
Email d.roos@sanquin.nl
Method Direct sequencing
Frequency on request
Turnaround about 1 month
Samples 1-2 per year
Price 550 Euro
Comment Only after consultation by email. Needed: purified DNA from
Comment EDTA blood or from citrate blood, NOT from heparin blood.
Comment Enzymatic analysis to establish MPO deficiency.
//
Disease p14 deficiency
Accession I0119
Date 10-Oct-2007 (Rel. 1, Created)
Date 10-Oct-2007 (Last updated)
IDR fact file FF161.xml
OMIM 610798
Gene MAPBPIP
IDbase MAPBPIPbase
Contact Christoph Klein, MD PhD
Address Associate Professor of Pediatric Hematology /
Address Oncology Hannover Medical School
Address Department of Pediatric Hematology, Oncology
Address Experimental Hematology / Oncology, OE
Address 6780 Carl-Neuberg-Str. 1 30625 Hannover, Germany
Telephone +49-511-532-6711
Fax +49-511-532-9120
Email klein.christoph@mh-hannover.de
URL http://www99.mh-hannover.de/
URL kliniken/paed_haemonko/kleinlab/KleinLab/Home.html
Method Direct sequencing
Frequency as requested
Turnaround about 1 week
Samples 10
Price 100 Euros
Comment p14 deficiency is an novel primary immunodeficiency
Comment syndrome associating congenital neutopenia,
Comment hypopigmentation of skin and hair, B and T cell deficiency
Comment and low growth. It is caused by deficiency of the endosomal
Comment adaptor protein p14 and resembles diseases such as
Comment Hemansky-Pudlak syndrome type 2, Griscelli syndrome type 2,
Comment or Chediak-Higashi syndrome. In case you suspect p14
Comment deficiency in your patients please contact us to decide
Comment upon the best material for analysis. In general 2-5 ml of
Comment blood are sufficient, but other sample types may be also
Comment suitable.
//
Disease RAG1 deficiency
Accession I0128
Date 16-Jan-2008 (Rel. 1, Created)
Date 16-Jan-2008 (Last updated)
IDR fact file FF2.xml
OMIM 179615
Gene RAG1
IDbase RAG1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease RAG2 deficiency
Accession I0129
Date 16-Jan-2008 (Rel. 1, Created)
Date 16-Jan-2008 (Last updated)
IDR fact file FF3.xml
OMIM 179616
Gene RAG2
IDbase RAG2base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Artemis deficiency
Accession I0130
Date 16-Jan-2008 (Rel. 1, Created)
Date 16-Jan-2008 (Last updated)
IDR fact file FF5.xml
OMIM 605988
Gene DCLRE1C
IDbase DCLRE1Cbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease JAK3 deficiency
Accession I0131
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF9.xml
OMIM 600173
Gene JAK3
IDbase JAK3base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease IL7 receptor alpha chain deficiency
Accession I0132
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF106.xml
OMIM 146661
Gene IL7R
IDbase IL7Rbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease CD45 deficiency
Accession I0133
IDR fact file FF6.xml
OMIM 151460
Gene PTPRC
IDbase PTPRCbase
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease CD3delta deficiency
Accession I0134
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF111.xml
OMIM 186790
Gene CD3D
IDbase CD3Dbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease CD3epsilon deficiency
Accession I0135
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF20.xml
OMIM 186830
Gene CD3E
IDbase CD3Ebase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease CD3zeta deficiency
Accession I0136
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF149.xml
OMIM 186780
Gene CD247
IDbase CD247base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease CD3gamma deficiency
Accession I0137
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF149.xml
OMIM 186780
Gene CD3G
IDbase CD3Gbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Cernunnos deficiency
Accession I0138
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF125.xml
OMIM 611290
Gene NHEJ1
IDbase NHEJ1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease DNA ligase 4 deficiency
Accession I0139
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF118.xml
OMIM 601837
Gene LIG4
IDbase LIG4base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease MHC class II deficiency/RFXANK
Accession I0140
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF15.xml
OMIM 603200
Gene RFXANK
IDbase RFXANKbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease MHC class II deficiency/RFX5
Accession I0141
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF13
OMIM 601863
Gene RFX5
IDbase RFX5base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease MHC class II deficiency/RFXAP
Accession I0142
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF14
OMIM 601861
Gene RFXAP
IDbase RFXAPbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease MHC class II deficiency/CIITA
Accession I0143
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF12
OMIM 600005
Gene CIITA
IDbase CIITAbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease TAP1 deficiency
Accession I0144
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF107.xml
OMIM 170260
Gene TAP1
IDbase TAP1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease TAP2 deficiency
Accession I0145
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF60.xml
OMIM 170261
Gene TAP2
IDbase TAP2base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease WHN (FOXN1) deficiency
Accession I0146
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF128.xml
OMIM 600838
Gene FOXN1
IDbase FOXN1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease SCID with CRAC channel dysfunction/TMEM142A
Accession I0147
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF147.xml
OMIM 610277
Gene ORAI1
IDbase ORAI1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Adenosine deaminase deficiency
Accession I0148
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF10.xml
OMIM 102700
Gene ADA
IDbase ADAbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Purine nucleoside phosphorylase deficiency
Accession I0149
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF11.xml
OMIM 164050
Gene NP
IDbase NPbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Accession I0150
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF71.xml
OMIM 300392
Gene WAS
IDbase WASbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease X-linked hyper-IgM syndrome/CD40LG
Accession I0151
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR factfile FF16.xml
OMIM 300386
Gene TNFSF5
IDbase TNFSF5base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Autoimmune polyendocrinopathy with candidiasis and
Disease ectodermal dystrophy
Accession I0152
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF72.xml
OMIM 607358
Gene AIRE
IDbase AIREbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease X-linked agammaglobulinemia
Accession I0153
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF22.xml
OMIM 300300
Gene BTK
IDbase BTKbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease WHIM syndrome
Accession I0154
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF7.xml
OMIM 162643
Gene CXCR4
IDbase CXCR4base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease X-linked hyper-IgM syndrome and hypohydrotic ectodermal
Disease dysplasia (Nemo deficiency)
Accession I0155
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF19.xml
OMIM 300248
Gene IKBKG
IDbase IKBKGbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease X-linked lymphoproliferative syndrome (Duncan disease)
Accession I0156
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF73.xml
OMIM 300490
Gene SH2D1A
IDbase SH2D1Abase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease TAP1 deficiency
Accession I0157
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF107.xml
OMIM 170260
Gene TAP1
IDbase TAP1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease TAP2 deficiency
Accession I0158
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF60.xml
OMIM 170261
Gene TAP2
IDbase TAP2base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease ZAP-70 deficiency
Accession I0159
Date 17-Jan-2008 (Rel. 1, Created)
Date 17-Jan-2008 (Last updated)
IDR fact file FF62.xml
OMIM 176947
Gene ZAP70
IDbase ZAP70base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease mu heavy-chain deficiency
Accession I0160
Date 21-Jan-2008 (Rel. 1, Created)
Date 21-Jan-2008 (Last updated)
IDR fact file FF26.xml
OMIM 147020
Gene IGHM
IDbase IGHMbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease lambda5 surrogate light-chain deficiency
Accession I0161
Date 21-Jan-2008 (Rel. 1, Created)
Date 21-Jan-2008 (Last updated)
IDR fact file FF27.xml
OMIM 146770
Gene IGLL1
IDbase IGLL1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Igalpha deficiency
Accession I0162
Date 21-Jan-2008 (Rel. 1, Created)
Date 21-Jan-2008 (Last updated)
IDR fact file FF25.xml
OMIM 112205
Gene CD79A
IDbase CD79Abase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease BLNK deficiency
Accession I0163
Date 21-Jan-2008 (Rel. 1, Created)
Date 21-Jan-2008 (Last updated)
IDR fact file FF24.xml
OMIM 604515
Gene BLNK
IDbase BLNKbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Agammaglobulinemia, non-Bruton type, autosomal
Disease dominant/LRRC8A
Accession I0164
Date 21-Jan-2008 (Rel. 1, Created)
Date 21-Jan-2008 (Last updated)
IDR fact file FF151.xml
OMIM 608360
Gene LRRC8A
IDbase LRRC8Abase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease CD40 deficiency
Accession I0165
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF18.xml
OMIM 109535
Gene TNFRSF5
IDbase TNFRSF5base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Non-X-linked hyper-IgM syndrome
Accession I0166
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF17.xml
OMIM 605257
Gene AICDA
IDbase AICDAbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease UNG deficiency (Hyper-IgM syndrome, type 5)
Accession I0167
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF127.xml
OMIM 191525
Gene UNG
IDbase UNGbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Ataxia-telengiectasia
Accession I0168
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF87.xml
OMIM 607585
Gene ATM
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Nijmegen-breakage syndrome
Accession I0169
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF88.xml
OMIM 602667
Gene NBS1
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Ataxia-telangiectasia-like disorder (ATLD)
Accession I0170
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF120.xml
OMIM 600814
Gene MRE11A
IDbase MRE11Abase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Hermansky-Pudlak syndrome 2
Accession I0171
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF108.xml
OMIM 603401
Gene AP3B1
IDbase AP3B1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Hyper-IgE syndrome/TYK2
Accession I0172
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF163
OMIM 176941
Gene TYK2
IDbase TYK2base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Hyper-IgE syndrome/STAT3
Accession I0173
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF167
OMIM 102582
Gene STAT3
IDbase STAT3base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Immunodeficiency, centromere instability and facial
Disease abnormalities syndrome (ICF)
Accession I0174
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF124.xml
OMIM 602900
Gene DNMT3B
IDbase DNMT3Bbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Chediak-Higashi syndrome
Accession I0175
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF79.xml
OMIM 606897
Gene LYST
IDbase LYSTbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Griscelli syndrome, type 1
Accession I0176
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF80.xml
OMIM 160777
Gene MYO5A
IDbase MYO5Abase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Griscelli syndrome, type 2
Accession I0177
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF122.xml
OMIM 603868
Gene RAB27A
IDbase RABD27Abase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Familial hemophagocytic lymphohistiocytosis type 2
Accession I0178
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF105.xml
OMIM 170280
Gene PRF1
IDbase PRF1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Familial hemophagocytic lymphohistiocytosis type 3
Accession I0179
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF126.xml
OMIM 608898
Gene UNC13D
IDbase UNC13Dbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Familial hemophagocytic lymphohistiocytosis type 3
Accession I0180
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF155.xml
OMIM 605014
Gene STX11
IDbase STX11base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease X-linked lymphoproliferative syndrome (Duncan disease)
Accession I0181
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF73.xml
OMIM 300490
Gene SH2D1A
IDbase SH2D1Abase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease X-linked lymphoproliferative syndrome 2/BIRC4
Accession I0182
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF165.xml
OMIM 300079
Gene BIRC4
IDbase BIRC4base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Omenn syndrome
Accession I0183
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF4.xml
OMIM 603554
Gene RAG1
IDbase RAG1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Omenn syndrome
Accession I0184
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF4.xml
OMIM 603554
Gene RAG2
IDbase RAG2base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Artemis deficiency/DCLRE1C
Accession I0185
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
IDR fact file FF5.xml
OMIM 605988
Gene DCLRE1C
IDbases DCLRE1Cbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Omenn syndrome/IL7R
Accession I0186
Date 22-Jan-2008 (Rel. 1, Created)
Date 22-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease ICOS deficiency
Accession I0187
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF116.xml
OMIM 604558
Gene ICOS
IDbase ICOSbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease CD19 deficiency/CD19
Accession I0188
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF150.xml
OMIM 107265
Gene CD19
IDbase CD19base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease TNFRSF13B deficiency
Accession I0189
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF150.xml
OMIM 107265
Gene TNFRSF13B
IDbase TNFRSF13Bbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Autoimmune lymphoproliferative syndrome, type 1A
Accession I0190
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF36.xml
OMIM 134637
Gene TNFRSF6
IDbase TNFRSF6base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Autoimmune lymphoproliferative syndrome, type 1B
Accession I0191
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF37.xml
OMIM 134638
Gene TNFSF6
IDbase TNFSF6base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Caspase 8 deficiency/Autoimmune lymphoproliferative
Disease syndrome type IIB
Accession I0192
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF110.xml
OMIM 601763
Gene CASP8
IDbase CASP8base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Caspase 10 deficiency/Autoimmune lymphoproliferative
Disease syndrome type II
Accession I0193
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF109.xml
OMIM 601762
Gene CASP10
IDbase CASP10base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Cartilage-hair hypoplasia
Accession I0194
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF77.xml
OMIM 157660
Gene RMRP
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Immunodeficiency, polyendocrinopathy, enteropathy, X-linked
Accession I0195
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF78.xml
OMIM 300292
Gene FOXP3
IDbase FOXP3base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Ectodermal anhydrotic dysplasia with T-cell
Disease immunodeficiency/NFKBIA
Accession I0196
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF121.xml
OMIM 164008
Gene NFKBIA
IDbase NFKBIAbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Ectodermal anhydrotic dysplasia with immunodeficiency/IKBKG
Accession I0197
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Incontinentia pigmenti/IKBKG
Accession I0198
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease IRAK4 deficiency
Accession I0199
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF117.xml
OMIM 606883
Gene IRAK4
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease WHIM syndrome
Accession I0200
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF7.xml
OMIM 162643
Gene CXCR4
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Epidermodysplasia verruciformis type 1
Accession I0201
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF114.xml
OMIM 605828
Gene EVER1
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Epidermodysplasia verruciformis type 2
Accession I0202
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF115.xml
OMIM 605829
Gene EVER2
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Cyclic neutropenia
Accession I0203
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF86.xml
OMIM 130130
Gene ELA2
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease GFI1 deficiency
Accession I0204
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF129.xml
OMIM 600871
Gene GFI1
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Severe congenital neutropenias, including Kostmann syndrome
Accession I0205
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF85.xml
OMIM 130130
Gene CSF3R
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Shwachman-Diamond syndrome/SBDS
Accession I0206
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease X-linked chronic granulomatous disease
Accession I0207
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF38.xml
OMIM 300481
Gene CYBB
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Autosomal chronic granulomatous disease/CYBA
Accession I0208
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Autosomal chronic granulomatous disease/NCF1
Accession I0209
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Autosomal chronic granulomatous disease/NCF2
Accession I0210
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Interleukin-12 receptor beta1 deficiency
Accession I0211
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF47.xml
OMIM 601604
Gene IL12RB1
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Interleukin-12 (IL-12) p40 deficiency
Accession I0212
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF46.xml
OMIM 161561
Gene IL12B
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease IFNgamma1-receptor deficiency
Accession I0213
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF44.xml
OMIM 107470
Gene IFNGR1
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease IFNgamma2-receptor deficiency
Accession I0214
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF45.xml
OMIM 147569
Gene IFNGR2
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease STAT1 deficiency
Accession I0215
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF70.xml
OMIM 600555
Gene STAT1
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Leukocyte adhesion deficiency I
Accession I0216
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF42.xml
OMIM 600065
Gene ITGB2
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Leukocyte adhesion deficiency II
Accession I0217
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF43.xml
OMIM 605881
Gene SLC35C1
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Leukocyte adhesion deficiency II
Accession I0218
Date 23-Jan-2008 (Rel. 1, Created)
Date 23-Jan-2008 (Last updated)
IDR fact file FF43.xml
OMIM 605881
Gene SLC35C1
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Crohn disease/NOD2
Accession I0219
Date 24-Jan-2008 (Rel. 1, Created)
Date 24-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Blau syndrome/NOD2
Accession I0220
Date 24-Jan-2008 (Rel. 1, Created)
Date 24-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Hepatic venoocclusive disease with immunodeficiency/SP110
Accession I0221
Date 25-Jan-2008 (Rel. 1, Created)
Date 25-Jan-2008 (Last updated)
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease STAT1 deficiency
Accession I0222
Date 25-Jan-2008 (Rel. 1, Created)
Date 25-Jan-2008 (Last updated)
IDR fact file FF70.xml
OMIM 600555
Gene STAT1
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Growth hormone insensitivity with immunodeficiency
Accession I0223
Date 25-Jan-2008 (Rel. 1, Created)
Date 25-Jan-2008 (Last updated)
IDR fact file FF125.xml
OMIM 604260
Gene STAT5B
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease C8 alpha-polypeptide deficiency
Accession I0224
Date 25-Jan-2008 (Rel. 1, Created)
Date 25-Jan-2008 (Last updated)
IDR fact file FF55.xml
OMIM 120950
Gene C8A
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease T-cell immunodeficiency, congenital alopecia, and nail
Disease dystrophy/WHN
Accession I0225
Date 25-Jan-2008 (Rel. 1, Created)
Date 25-Jan-2008 (Last updated
IDR fact file FF128.xml
OMIM 600838
Gene FOXN1
IDbase FOXN1base
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Non-X-linked hyper-IgM syndrome
Accession I0227
Date 07-Feb-2008 (Rel. 1, Created)
Date 07-Feb-2008 (Last updated)
IDR fact file FF17.xml
OMIM 605257
Gene AICDA
IDbase AICDAbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease Adenosine deaminase deficiency
Accession I0228
Date 07-Feb-2008 (Rel. 1, Created)
Date 07-Feb-2008 (Last updated)
IDR fact file FF10.xml
OMIM 102700
Gene ADA
IDbase ADAbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease Artemis deficiency
Accession I0229
Date 07-Feb-2008 (Rel. 1, Created)
Date 07-Feb-2008 (Last updated)
IDR fact file FF5.xml
OMIM 605988
Gene DCLRE1C
IDbase DCLRE1Cbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease Autoimmune polyendocrinopathy with candidiasis and
Disease ectodermal dystrophy
Accession I0230
Date 07-Feb-2008 (Rel. 1, Created)
Date 07-Feb-2008 (Last updated)
IDR fact file FF72.xml
OMIM 607358
Gene AIRE
IDbase AIREbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease CD3delta deficiency
Accession I0231
Date 07-Feb-2008 (Rel. 1, Created)
Date 07-Feb-2008 (Last updated)
IDR fact file FF111.xml
OMIM 186790
Gene CD3D
IDbase CD3Dbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease CD3epsilon deficiency
Accession I0232
Date 07-Feb-2008 (Rel. 1, Created)
Date 07-Feb-2008 (Last updated)
IDR fact file FF20.xml
OMIM 186830
Gene CD3E
IDbase CDREbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease CD40 deficiency
Accession I0233
Date 07-Feb-2008 (Rel. 1, Created)
Date 07-Feb-2008 (Last updated)
IDR fact file FF18.xml
OMIM 109535
Gene TNFRSF5
IDbase CD40base
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease IFNgamma1-receptor deficiency
Accession I0234
Date 07-Feb-2008 (Rel. 1, Created)
Date 07-Feb-2008 (Last updated)
IDR fact file FF44.xml
OMIM 107470
Gene IFNGR1
IDbase IFNGR1base
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease IFNgamma2-receptor deficiency
Accession I0235
Date 07-Feb-2008 (Rel. 1, Created)
Date 07-Feb-2008 (Last updated)
IDR fact file FF45.xml
OMIM 147569
Gene IFNGR2
IDbase IFNGR2base
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease Interleukin 7 receptor deficiency
Accession I0236
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF106.xml
OMIM 146661
Gene IL7R
IDbase IL7Rbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease JAK3 deficiency
Accession I0237
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF9.xml
OMIM 600173
Gene JAK3
IDbase JAK3base
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease Omenn syndrome
Accession I0238
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF4.xml
OMIM 603554
Gene RAG2
IDbase RAG2base
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting
//
Disease RAG2 deficiency
Accession I0239
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF3.xml
OMIM 179616
Gene RAG2
IDbase RAG1base
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease Omenn syndrome
Accession I0240
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF4.xml
OMIM 603554
Gene RAG1
IDbase RAG1base
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease UNG deficiency (Hyper-IgM syndrome, type 5)
Accession I0241
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF127.xml
OMIM 191525
Gene UNG
IDbase UNGbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Accession I0242
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF71.xml
OMIM 300392
Gene WAS
IDbase WASbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease X-linked SCID(gammac-chain deficiency)
Accession I0243
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF8.xml
OMIM 308380
Gene IL2RG
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease X-linked agammaglobulinemia
Accession I0244
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF22.xml
OMIM 300300
Gene BTK
IDbase BTKbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease X-linked chronic granulomatous disease
Accession I0245
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF38.xml
OMIM 300481
Gene CYBB
IDbase CYBBbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease X-linked hyper-IgM syndrome and hypohydrotic ectodermal
Disease dysplasia (Nemo deficiency)
Accession I0246
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF19.xml
OMIM 300248
Gene IKBKG
IDbase IKBKGbase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease X-linked lymphoproliferative syndrome (Duncan disease)
Accession I0247
Date 08-Feb-2008 (Rel. 1, Created)
Date 08-Feb-2008 (Last updated)
IDR fact file FF73.xml
OMIM 300490
Gene SH2D1A
IDbase SH2D1Abase
Contact Romina LeBlanc, M.S., MBA
Address Correlagen Diagnostics, Inc.
Address 307 Waverley Oaks Road Suite 101 Waltham, MA 02452, USA
Telephone 1-617-851-3769
Fax 1-617-812-6426
Email rleblanc@correlagen.com
URL www.correlagen.com
Method Direct sequencing; Additionally we offer carrier testing
Method and known mutation analysis
Frequency As needed
Turnaround 2-4 weeks
Price Available upon request
Comment Correlagen Diagnostics, Inc. is a CLIA certified and CAP
Comment accredited clinical laboratory in United States. Our
Comment company’s mission is to promote use of clinically
Comment appropriate genetic testing to facilitate the diagnosis and
Comment treatment of Primary Immunodeficiency Diseases. We offer
Comment high-quality, cost-effective, full-length gene sequencing
Comment tests, with rapid turn-around times and comprehensive and
Comment user-friendly reporting.
//
Disease CD8alpha deficiency
Accession I0248
Date 11-Feb-2008 (Rel. 1, Created)
Date 11-Feb-2008 (Last updated)
IDR fact file FF64.xml
OMIM 186910
Gene CD8A
IDbase CD8Abase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease X-linked SCID(gammac-chain deficiency)
Accession I0249
Date 11-Feb-2008 (Rel. 1, Created)
Date 11-Feb-2008 (Last updated)
IDR fact file FF8.xml
OMIM 308380
Gene IL2RG
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease IL2RA deficiency/IL2RA
Accession I0250
Date 11-Feb-2008 (Rel. 1, Created)
Date 11-Feb-2008 (Last updated)
IDR fact file FF63.xml
OMIM 147730
Gene IL2RA
IDbase IL2RAbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//
Disease Griscelli syndrome, type 3 /MLPH
Accession I0251
Date 11-Feb-2008 (Rel. 1, Created)
Date 11-Feb-2008 (Last updated)
IDR fact file FF156.xml
OMIM 606526
Gene MLPH
IDbase MLPHbase
Contact Dr. Klaus Schwarz
Address Institute for Clinical Transfusion Medicine and
Address Immunogenetics (IKT), Ulm, Helmholtzstrasse 10, 89081 Ulm,
Address Germany
Telephone +49 731 150 599
Fax +49 731 150 645
Email klaus.schwarz@uni-ulm.de
Method Direct sequencing
Frequency on demand
Price international: on request / an Überweisungsschein is
Price required for participants of the german health insurance
Price system
Comment Samples: In general 1-5 ml EDTA blood. In specific cases
Comment after discussion additional blood or tissue components may
Comment be required.
//