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Genes Targeted:
| ADA |
ORAI1 |
RFXAP |
| CD3D |
PNP |
TAP1 |
| CD3E |
PTPRC |
CIITA |
| DCLRE1C |
RAG1 |
RFX5 |
| FOXN1 |
RAG2 |
TAPBP |
| IL2RG |
RMRP |
STAT5B |
| IL7R |
STAT5B |
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| JAK3 |
STIM1 |
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| LIG4 |
TBX1 |
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| NHEJ1 |
ZAP70 |
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The Severe Combined Immunodeficiency (SCID) Sequencing assay is performed using capture probes targeting 25 genes with mutations covering approximately 90% of SCID Cases [1,2]. Large insertions and deletions/duplications will not be detected using this assay.
Captured genes are sequenced using Illumina technology. The assay focuses on exonic regions harboring known disease-causing mutations. Detection of insertions or deletions of greater than 2 basepairs has not been assessed.
This test was developed and its performance characteristics validated by the Molecular Immunology Laboratory. It has not been cleared nor approved by the FDA.
References:
[1] A. Bousfiha, L. Jeddane, C. Picard, F. Ailal, H. Bobby Gaspar, W. Al-Herz, T. Chatila, Y.J. Crow, C. Cunningham-Rundles, A. Etzioni, J.L. Franco, S.M. Holland, C. Klein, T. Morio, H.D. Ochs, E. Oksenhendler, J. Puck, M.L.K. Tang, S.G. Tangyre, T.R. Torgerson, J.L Casanova, K.E. Sullivan, The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencys, J. Clin Immunol. 38 (2018) 129-143. doi: 10.1007/s10875-017-0465-8.
[2] C. Picard, H. Bobby Gaspar, W. Al-Herz, A. Bousfiha, J.L. Casanova, T. Chatila, Y.J. Crow, C. Cunningham-Rundles, A. Etzioni, J.L. Franco, S.M. Holland, C. Klein, T. Morio, H.D. Ochs, E. Oskenhendler, J. Puck, M.L.K. Tang, S.G. Tangye, T.R. Torgerson, K.E. Sullivan, International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity, J. Clin. Immunol. 38 (2018) 96-128. doi: 10.1007/s10875-017-0464-9
Please call lab (984-974-4057) with questions.
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