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.
 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.
 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.