Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel

CPT: 81404; 81479
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Special Instructions

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).



Specimen Requirements


Specimen

Whole blood; acceptable alternate: cheek swab (buccal swab)


Volume

3 mL


Minimum Volume

1 mL


Container

Lavender-top (EDTA) tube


Collection

Invert tube 4 times to ensure adequate mixing.


Storage Instructions

Room temperature


Stability Requirements

Temperature

Period

Room temperature

1 month


Causes for Rejection

Sample contamination


Test Details


Use

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.


Limitations

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.


Methodology

Next Generation Sequencing (NGS)


References

Côte M, Ménager MM, Burgess A, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009 Dec;119(12):3765-3773.19884660
George MR. Hemophagocytic lymphohistiocytosis: review of etiologies and management. J Blood Med. 2014 Jun 12;5:69-86.24966707
Jordan MB, Allen CE, Weitzman S, Filipovich AH, McClain KL. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011 Oct 13;118(15):4041-4052.21828139
Niece JA, Rogers ZR, Ahmad N, Langevin AM, McClain KL. Hemophagocytic lymphohistiocytosis in Texas: Observations on ethnicity and race. Pediatr Blood Cancer. 2010 Mar;54(3):424-428.19953651
U.S. Food and Drug Administration. FDA approves first treatment specifically for patients with rare and life-threatening type of immune disease [Press Release]. Silver Spring, MD: FDA; Nov. 20, 2018.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
830203 Hemoph. Lymph.(HLH) Gene Panel 830204 Result Not Available
830203 Hemoph. Lymph.(HLH) Gene Panel 830206 Clinical Comment Not Available
830203 Hemoph. Lymph.(HLH) Gene Panel 830207 Background Not Available
830203 Hemoph. Lymph.(HLH) Gene Panel 830208 Methodology Not Available
830203 Hemoph. Lymph.(HLH) Gene Panel 830209 Limitations Not Available
830203 Hemoph. Lymph.(HLH) Gene Panel 830210 ASR Disclaimer Not Available
830203 Hemoph. Lymph.(HLH) Gene Panel 830359 PDF Not Available

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