LabCorp and its Specialty Testing Group, a fully integrated portfolio of specialty and esoteric testing laboratories.
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.
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)
|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||Not Available|
© 2019 Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.
The LOINC® codes are copyright © 1994-2018, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf