Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS)
GTR Test Accession: Help GTR000512561.7
INHERITED DISEASEIMMUNOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2022-09-19
Last annual review date for the lab: 2023-07-31 LinkOut
At a Glance
Diagnosis
Familial hemophagocytic lymphohistiocytosis 4; Chédiak-Higashi syndrome; Familial hemophagocytic lymphohistiocytosis 2; ...
AP3B1 (5q14.1), AP3D1 (19p13.3), CD27 (12p13.31), CD70 (19p13.3), CTPS1 (1p34.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
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View lab's test page
Test short name: Help
HLH panel
Specimen Source: Help
Test Order Code: Help
https://www.cincinnatichildrens.org/service/d/diagnostic-labs/mo
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Lab contact: Help
Lab Administration, Administrator
LabGeneticCounselors@cchmc.org
513-636-4474
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Complete the appropriate test requisition and have it signed by the referring physician.
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Test strategy: Help
Our diagnostic immunology laboratory has several relevant flow cytometry tests for HLH. Single gene sequencing is available for any gene on the panel.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 18
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 18
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Approximately 70% of individuals with familial hemophagocytic lymphohistiocytosis (FHL) have pathogenic variants in PRF1, UNC13D, STX11 or STXBP2. About 2-3% of individuals with FHL have pathogenic variants in RAB27A. Other genes on this panel are associated with differential diagnoses for FHL, and the clinical sensitivity for these genes depend on … View more
Assay limitations: Help
Variants in the regulatory regions and nonreported variants in the untranslated regions may not be detected by this test. Large deletions/ duplications, large insertions and other complex genetic events will not be identified using sequencing methodology.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.