Classic view of this page
HFE Targeted Mutation Analysis for Hemochromatosis
Clinical Genetic Test
Help
offered by
Molecular Diagnostics Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000253211.1
CAP
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2013-06-03
View version history
Last annual review date for the lab: 2024-03-11 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic
Conditions (1): Help
Hemochromatosis type 1
Genes (1): Help
HFE (6p22.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: amplification refractory mutation system (ARMS)
Target population: Help
Testing for hereditary hemochromatosis is indicated in patients with clinical …
Clinical validity: Help
Although numerous allelic variants of HFE have been described, only …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics Laboratory
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
HFE Mutation Analysis
View other test codes
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 …
View more
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
Decline to answer
Recommended fields not provided:
Lab contact for this test, 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: 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:
Clinical utility, 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
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
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:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, 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.