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Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel
- Factor IX Genetic Sequencing
- Factor VIII Genetic Sequencing
- Inversion testing
- Von Willbrand Genetic Sequencing
The following genes associated with hemophagocytic lymphohistiocytosis (HLH) are sequenced using Next Generation Sequencing (NGS): LYST, NLRC4, AP3B1, STX11, PRF1, RAB27A, UNC13D (MUNC13-4), STXBP2, SH2D1A (SAP is protein), and XIAP (BIRC4).
Whole blood; acceptable alternate: cheek swab (buccal swab)
Lavender-top (EDTA) tube
Invert tube 4 times to ensure adequate mixing.
Causes for Rejection
Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening disease where an underlying immune defect or triggering event initiates excessive activation of immune cells (macrophages and lymphocytes) leading to multi-organ dysfunction and failure. Median survival without treatment is less than two months. Treatment of HLH may vary depending on the underlying cause, including whether a genetic cause is detected.
This test targets all exons and untranslated regions of the selected genes, 25-bp of intronic DNA flanking the exon-intron boundary, plus several additional known variants of interest elsewhere in the genome for sequencing. This test would not detect a causative mutation within promoter regions or elsewhere in the genome that were not specifically targeted. A rare variant that disrupts primer binding during PCR could potentially lead to a false negative. All our reports are based on the current understanding of the genes and disease. This understanding changes over time as new papers are published. We recommend annual follow-up for more current interpretations. This test will not detect inhibitors to F8, F9 or VWF proteins, which are non-hereditary. This test does not detect pseudo-VWD (also called platelet VWD), caused by mutations in GP1B.
Next Generation Sequencing (NGS)