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Hemochromatosis
Clinical Genetic Test
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offered by
Genetics Laboratory
GTR Test Accession: Help GTR000500300.4
CAP
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2023-02-08
View version history
Last annual review date for the lab: 2023-02-08 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Hemochromatosis type 1
Genes (1): Help
HFE (6p22.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: SNP Detection
Target population: Help
HFE-HH should be suspected in any individual with clinical signs …
Clinical validity: Help
At a frequency of 40 per 10,000 for the homozygous …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Genetics Laboratory
View lab's website
Test short name: Help
HFE
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Samples should be submitted with the appropriate requisition form (DNA test request form). Samples are received Monday through Saturday. Blood should be collected in EDTA or ACD tubes.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Prenatal tesing
FISH Analysis
Drug Metabolism testing
Cytogenetics Analysis
Maternal Serum Screening
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies
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, 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
SNP Detection
Other
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
At a frequency of 40 per 10,000 for the homozygous genotype, the analytic positive predictive value is 66%. Approximately 87% of individuals of European origin with HFE-HH are either homozygous for the p.Cys282Tyr mutation or compound heterozygous for the p.Cys282Tyr and p.His63Asp mutations
View citations (2)
  • Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing. Palomaki GE, et al. Genet Med. 2003;5(6):440-3. doi:10.1097/01.gim.0000096500.66084.85. PMID: 14614395.
  • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Feder JN, et al. Nat Genet. 1996;13(4):399-408. doi:10.1038/ng0896-399. PMID: 8696333.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Yang J, Visscher PM, Wray NR. Sporadic cases are the norm for complex disease. Eur J Hum Genet. 2010;18(9):1039-43. doi:10.1038/ejhg.2009.177. Epub 2009 Oct 14. PMID: 19826454.

Target population: Help
HFE-HH should be suspected in any individual with clinical signs of advanced iron overload, including: hepatomegaly, hepatic cirrhosis, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, hypogonadism, arthritis, progressive increase in skin pigmentation.
View citations (1)
  • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Feder JN, et al. Nat Genet. 1996;13(4):399-408. doi:10.1038/ng0896-399. PMID: 8696333.
Recommended fields not provided:
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 Procedure: Help
Positive results are confirmed by comparison with known positive controls
Test Platform:
SeqStudio Genetic Analyzer (Thermofisher Scientific)
Test Confirmation: Help
Positive results are confirmed by comparison with known positive controls
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytic sensitivity for C282Y homozygosity is 98.4% (95% CI 95.9%-99.5%). The analytic specificity is 99.8% (99.4%-99.9%). At a frequency of 40 per 10,000 for the homozygous genotype, the analytic positive predictive value is 66%. Approximately 87% of individuals of European origin with HFE-HH are either homozygous for the p.Cys282Tyr mutation … View more
View citations (2)
  • Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing. Palomaki GE, et al. Genet Med. 2003;5(6):440-3. doi:10.1097/01.gim.0000096500.66084.85. PMID: 14614395.
  • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Feder JN, et al. Nat Genet. 1996;13(4):399-408. doi:10.1038/ng0896-399. PMID: 8696333.
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:
Assay limitations, Description of internal test validation method, 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.