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Genes Targeted:
| AP3B1 |
BLOC156 |
CD27 |
| ITK |
LYST |
MAGT1 |
| PRF1 |
RAB27A |
SH2D1A |
| SLC7A7 |
STX11 |
STXBP2 |
| UNC13D |
XIAP |
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The HLH Sequencing assay is performed using capture probes targeting 14 genes with mutations covering 99% of familial HLH Cases [1,2]. The assay fails to capture the 5' UTR region of STXBP2 thus mutations within this region cannot be assessed.
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] S. Chandrakasan, A.H. Filipovich, Hemophagocytic lymphohistiocytosis: advances in pathophysiology, diagnosis, and treatment, J Pediatr. 163 (2013) 1253-1259 doi:10.1016/j.peds.2013.06.053
[2] K. Zhang, A.H. Filipovich, R.A. Marsh, J. Villanueva, Hemophagocytic Lymphohistocytosis, Familial, University of Washington, Seattle, 1993.
http://www.ncbi.nlm.nih.gov/pubmed/20301617/
Please call lab (984-974-4057) with questions.
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