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HLH Genetic Panel 3.0


Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening disease where an underlying immune defect and/or triggering event initiates excessive activation of immune cells (macrophages and lymphocytes) leading to multi-organ dysfunction and failure. Treatment of HLH may vary depending on the underlying cause, including whether a genetic cause is detected. Timely diagnosis has been a major challenge, with patients having to start aggressive therapies or be admitted to the ICU before final diagnostic results are available. Note: this is the third time (3.0 name designation) we have updated the gene list to reflect the most current understanding of HLH in the scientific literature.

STAT: < 48 hours (M-F)

NGS, Inversion Assay

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood


Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
ALTERNATIVE Cheek swab 2 swabs - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS Post bone marrow transplant (post-BMT) patients require a cheek swab sample to test the transplant recipient; post-BMT patients require a venous blood sample to test the bone marrow donor. Two consecutive business days are required to complete this test.

General Information

METHODOLOGY NGS, Inversion Assay
STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 1 week
ALTERNATIVE NAMES Hemophagocytic Lymphohistiocytosis Genetic Panel, hereditary hemophagocytic lymphohistiocytosis, Primary hemophagocytic lymphohistiocytosis, Primary HLH, FLH, Familial Hemophagocytic lymphohistiocytosis
DESCRIPTION This test sequences the exons plus 5bp of the flanking introns of (32 genes) ADA, AP3B1, AP3D1, CD27, CD70, CDC42, CTPS1, CYBA, CYBB, CYBC1, GATA2, HAVCR2, IL2RG, ITK, LIPA, LYST, MAGT1, NCF2, NCF4, NCKAP1L, NLRC4, PRF1, RAB27A, RASGRP1, RC3H1, RHOG, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP and UNC13D 253-kb inversion. Additionally, several known mutations that reside in deep intronic or promoter elements are also included. Sanger sequencing may be used to confirm variants as needed. This test also includes a PCR-based assay to detect the recurrent pathogenic UNC13D inversion.
LIMITATIONS This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay.
NORMAL RANGE Interpretation: Negative
ASSOCIATED TESTING Soluble IL-2R alpha (CD25) Level, CXCL9 Level, IL-18 Level, HLH Extended Genetic Panel 3.0

1. George MR. Hemophagocytic lymphohistiocytosis: review of etiologies and management. J Blood Med. 2014, 5:69-86.

2. Jordan MB et al. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011, 118:4041-4052.

3. Cote M et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009, 119:3765–3773.

4. Niece JA et al. Hemophagocytic lymphohistiocytosis in Texas: Observations on ethnicity and race. Pediatr Blood Cancer. 2010, 54:424–8.5. U.S. Food and Drug Administration. FDA approves first treatment specifically for patients with rare and life-threatening type of immune disease [Press Release], 2018.

SAMPLE REPORT Upon request
NEW YORK STATE APPROVED NY Restricted Laboratory Permit Required

Test Codes

CPT CODE 81443
LOINC CODE 99971-4