The ALPS sequencing assay was performed using unsorted cells with capture probes targeting 14 genes with mutations covering approximately 78% of ALPS cases [1,2]. *The assay does not detect somatic mutations in FAS or provide deletion/duplication detection. If clinically indicated, sorted double negative T cells should be evaluated for somatic mutations in FAS. Additionally, approximately 20% of ALPS patients lack a genetic diagnosis .
Captured genes were 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.
 D.T. Teachey, A.E. Seif, S.A. Grupp, Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS), Br. J. Haematol. 148 (2010) 205–216. doi:10.1111/j.1365-2141.2009.07991.x.
 F. Rieux-Laucat, F. Le Deist, A. Fischer, Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways. Cell Death Differ. 10 (2003) 124–133. doi:10.1038/sj.cdd.4401190.
 J.J.H. Bleesing, Autoimmune lymphoproliferative syndrome (ALPS). Curr. Pharm. Des. 9 (2003) 265–278.
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