Hemophagocytic Lymphohistiocytosis (HLH) Genetic Analysis

CPT: 81403; 81404(x2); 81405; 81406(x2); 81479
Print Share

Synonyms

  • Familial erythrophagocytic lymphohistiocytosis
  • Familial hemophagocytic lymphohistiocytosis
  • Hemophagocytic Lymphohistiocytosis (HLH)
  • Hemophagocytic Syndrome
  • Macrophage activation syndrome
  • Primary hemophagocytic lymphohistiocytosis
  • Secondary hemophagocytic lymphohistiocytosis

Test Includes

ADA, AP3B1, BLOC1S6, BTK, CD27, CD70, CORO1A, CTPS1, CYBB, FADD, FAS, FASLG, GATA2, IL2RA, IL2RG, ITK, LAMP1, LIPA, LYST, MAGT1, MEFV, MVK, NLRC4, NLRP3, PNP, PRF1,RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, TBXAS1, TNFRSF1A, UNC13D, WAS, XIAP


Expected Turnaround Time

14 - 28 days



Specimen Requirements


Specimen

Whole blood; oral swab or extracted DNA (from blood or oral swab only)


Volume

Whole blood: 4 mL; oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Minimum Volume

Whole blood: 2 mL; oral swab: 1 swab; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Container

Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Collection

Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.


Stability Requirements

Room temperature: whole blood: 14 days; swab: 60 days

Refrigerated: whole blood: 30 days; swab: 60 days

Frozen: do not freeze


Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container


Test Details


Use

Diagnostic testing


Limitations

This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)


LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
630477 HLH Genetic Analysis 630478 Result 51969-4
630477 HLH Genetic Analysis 630479 Interpretation 50397-9
630477 HLH Genetic Analysis 630480 Footnotes 8251-1
630477 HLH Genetic Analysis 630481 PDF Image 80563-0

For Providers

Please login to order a test

Order a Test

© 2021 Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2021, 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