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Hemochromatosis
Clinical Genetic Test
Help
offered by
CHEO Genetics Diagnostic Laboratory
GTR Test Accession: Help GTR000560787.2
METABOLIC DISEASEINHERITED DISEASE
Last updated in GTR: 2019-07-19
View version history
Last annual review date for the lab: 2024-07-04 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Predictive
Conditions (1): Help
Hereditary hemochromatosis
Genes (1): Help
HFE (6p22.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: RFLP
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
CHEO Genetics Diagnostic Laboratory
View lab's website
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
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:
Test Order Code, How to Order, Lab contact for this test, Contact policy, Test strategy, Test development
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
RFLP
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Predictive
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Approximately 88% of hemochromatosis cases are caused by two mutations in the HFE gene. Most (~ 82%) are homozygous for the p.Cys282Tyr (C282Y) mutation, while ~ 5% are compound heterozygotes having one copy of p.Cys282Tyr (C282Y) and one copy of p.His63Asp (H63D). Approximately 1% are p.His63Asp (H63D) homozygotes and approximately … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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
Not provided
Additional Information

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