Hemochromatosis (HFE gene)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000568258.3
- Last updated: 2023-07-28
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Hereditary hemochromatosis
Offered by Molecular Genetics and Cytogenetics, Clinical Laboratory Service
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Hemochromatosis (HFE gene) (Hemochromatosis)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
Not provided
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- TTargeted variant analysis
- Uni-directional Sanger sequencing
Establish or confirm diagnosis
- Molecular diagnostic and pathogenesis of hereditary hemochromatosis. - PubMed ID: 22408404
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.The pathogenic variant p.Cys282Tyr in the HFE gene occurs in approximately 80% of HH cases. In addition, a high proportion of the remaining patients are compound heterozygous for p.Cys282Tyr and the common p.His63Asp variant. In homozygous individuals p.His63Asp, the penetrance is less than the previous one, although patients may present biochemical abnormalities, the characteristic clinical manifestations of iron overload are rare. The p.Ser65Cys variant is currently classified as a significance uncertain and the genotype p.His63Asp / p.Ser65Cys has been associated with iron overload.
- Molecular diagnostic and pathogenesis of hereditary hemochromatosis. - PubMed ID: 22408404
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- EuroGenetest, 2010Clinical utility gene card for: Haemochromatosis [HFE]
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