Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel (32 genes and UNC13D inversion) … see more Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel (32 genes and UNC13D inversion) (2 Day STAT TAT)  see less
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000613185.1
Last updated in GTR: 2024-02-29
Last annual review date for the lab: 2023-04-07 Past due LinkOut
At a Glance
X-linked lymphoproliferative disease due to XIAP deficiency; Familial hemophagocytic lymphohistiocytosis 2; Familial hemophagocytic lymphohistiocytosis 3; ...
ADA (20q13.12), AP3B1 (5q14.1), AP3D1 (19p13.3), CD27 (12p13.31), CD70 (19p13.3), ...
Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Clinical sensitivity: Because the conditions targeted here are mostly ultra-rare, …
Not provided
Ordering Information
Offered by: Help
Machaon Diagnostics
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
How to Order: Help
Test service: Help
Custom Sequence Analysis
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 32
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Clinical validity: Help
Clinical sensitivity: Because the conditions targeted here are mostly ultra-rare, potentially under-diagnosed, and in need of more research, the clinical sensitivity is unknown. Mutations in the genes covered in our panel may account for 90% of the cases of primary/familial HLH; the cause of the remaining 10% is unknown. Nevertheless, … View more
View citations (1)
  • Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, Prince N, Cariou A, Nitschke P, Blank U, El-Ghazali G, Ménasché G, Latour S, Fischer A, de Saint Basile G. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009;119(12):3765-73. doi:10.1172/JCI40732. Epub 2009 Nov 02. PMID: 19884660.
Recommended fields not provided:
Technical Information
Test Comments: Help
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. … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytic specificity and sensitivity of the NGS panel are greater than 99%.
Assay limitations: Help
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 … View more
View citations (1)
  • Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT. Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. Genome Med. 2015;7:130. doi:10.1186/s13073-015-0244-1. Epub 2015 Dec 18. PMID: 26684649.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.