HFE Targeted Mutation Analysis for Hemochromatosis
GTR Test Accession: Help GTR000253211.1
Last updated in GTR: 2013-06-03
Last annual review date for the lab: 2024-03-11 LinkOut
At a Glance
Diagnosis; Pre-symptomatic
Hemochromatosis type 1
Genes (1): Help
HFE (6p22.2)
Molecular Genetics - Targeted variant analysis: amplification refractory mutation system (ARMS)
Testing for hereditary hemochromatosis is indicated in patients with clinical …
Although numerous allelic variants of HFE have been described, only …
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics Laboratory
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Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
HFE Mutation Analysis
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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
Specimen Type
Whole Blood (EDTA)

Container & Volume
Age Group Container Volume
0 - = 18 Years LAVENDER TOP TUBE 5 ML

Label Reminders
Be sure to include the patient's name, history #, date and time of …
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Order URL
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
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Recommended fields not provided:
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
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
amplification refractory mutation system (ARMS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
Clinical validity: Help
Although numerous allelic variants of HFE have been described, only two mutations have been associated with hereditary hemochromatosis; C282Y and H63D. These mutations have a high frequency in the general US population (C282Y/C282Y = 0.4%, C282Y/H63D = 2%, H63D/H63D = 2%, C282Y/wt = up to 9.2%, H63D/wt = 23%), and … View more
Target population: Help
Testing for hereditary hemochromatosis is indicated in patients with clinical symptoms suggestive of this disease, including; cirrhosis, arthritis, cardiac arrhythmias, hypogonadism, diabetes mellitus and progressive skin pigmentation
Recommended fields not provided:
Technical Information
Test Comments: Help
Mutation panel: C282Y, H63D
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
• This test detects only the HFE C282Y and H63D point mutations and no other mutations that may occur in the HFE gene. • This test is subjected to interference by various factors such as DNA quality, presence of PCR inhibitor, mutation and polymorphism of HFE gene sequence, etc.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

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
Category: FDA exercises enforcement discretion
Additional Information

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