Hereditary Hemochromatosis
GTR Test Accession: Help GTR000531566.2
CAP
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2020-06-02
Last annual review date for the lab: 2024-04-29 LinkOut
At a Glance
Diagnosis; Screening
Hemochromatosis type 1; Hereditary hemochromatosis
Genes (1): Help
HFE (6p22.2)
Molecular Genetics - Targeted variant analysis: PCR
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Diagnostic Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
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.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
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: 2
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: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Recommended fields not provided:
Technical Information
Test Procedure: Help
A PCR-based assay using TaqMan chemistry is used to identify the HFE variants p.C282Y (c.845G>A, p.Cys282Tyr), p.H63D (c.187C>G, p.His63Asp) and p.S65C (c.193A>T, p.Ser65Cys).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Detects C282Y, H63D and S65C
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

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

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