|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.|
|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|