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Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Inversion
Clinical Genetic Test
Help
offered by
PreventionGenetics, part of Exact Sciences
View lab's test page
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GTR Test Accession: Help GTR000591171.1
IMMUNOLOGYINHERITED DISEASESYNDROMIC DISEASE ... View more
Registered in GTR: 2020-07-01
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Last annual review date for the lab: 2024-05-20 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Familial hemophagocytic lymphohistiocytosis 3
Genes (1): Help
UNC13D (17q25.1)
Methods (2): Help
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis; PCR with allele specific hybridization
Target population: Help
Patients with clinical features or family history of FHL or …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
PreventionGenetics, part of Exact Sciences
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
How to Order: Help
Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 2050
Custom Sequence Analysis
    OrderCode: 100, 200, 300
Maternal cell contamination study (MCC)
    OrderCode: 800
Test additional service: Help
Custom Prenatal Testing
    OrderCode: 990
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Targeted variant analysis
PCR with allele specific hybridization
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Target population: Help
Patients with clinical features or family history of FHL or FHL-related disorders including lymphoproliferative syndromes and immunodeficiencies are candidates. Targeted testing is indicated for family members of patients who have known pathogenic variants in UNC13D. This test may also be considered for the reproductive partners of individuals who carry pathogenic … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The PreventionGenetics protocol for interpreting sequence variants has been carefully developed over a period of 10 years. We are conservative in our interpretations. We do not label a variant as pathogenic or benign without conclusive evidence. Although we use a variety of software to assist us in interpretation, we rely … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. Please visit our website for details at https://www.preventiongenetics.com/forms.php for Targeted variant tests.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Please visit our website for details http://preventiongenetics.com/
Recommended fields not provided:
Clinical validity, Clinical utility, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
This test is performed using custom PCR primer probesets to amplify regions within and surrounding the 253-kb inversion sequence. Appropriate positive and negative controls are used in order to confirm the presence of the inversion in carriers and when present in the homozygous state in affected individuals.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The UNC13D inversion was identified in 7% of FHL patients in one report (Meeths et al. 2011. PubMed ID: 21931115; Qian et al. 2014. PubMed ID: 24470399).
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.

Laboratory's policy on reporting novel variations Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.
Recommended fields not provided:
Test Confirmation, 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.