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Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS)
Clinical Genetic Test
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offered by
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000512561.7
INHERITED DISEASEIMMUNOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2022-09-19
View version history
Last annual review date for the lab: 2024-07-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (18): Help
Familial hemophagocytic lymphohistiocytosis 4; Chédiak-Higashi syndrome; Familial hemophagocytic lymphohistiocytosis 2 more...
Genes (18): Help
AP3B1 (5q14.1); AP3D1 (19p13.3); CD27 (12p13.31); CD70 (19p13.3); CTPS1 (1p34.2) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
HLH panel
Specimen Source: Help
  • Peripheral (whole) blood
Test Order Code: Help
https://www.cincinnatichildrens.org/service/d/diagnostic-labs/mo
View other test codes
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 but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.