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Hereditary Hemochromatosis, DNA Analysis
Clinical Genetic Test
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offered by
Molecular Diagnostic Laboratory
GTR Test Accession: Help GTR000531375.1
INHERITED DISEASEMETABOLIC DISEASE
Registered in GTR: 2016-05-26
View version history
Last annual review date for the lab: 2024-08-01 LinkOut
At a Glance
Test purpose: Help
Risk Assessment
Conditions (1): Help
Hemochromatosis type 1
Genes (1): Help
HFE (6p22.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Individuals with symptoms consistent with hereditary hemochromatosis or with a …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
View lab's website
Test Order Code: Help
511345
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:
How to Order, Specimen source, 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
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Risk Assessment
Target population: Help
Individuals with symptoms consistent with hereditary hemochromatosis or with a known family history of HFE mutations
Recommended fields not provided:
Clinical validity, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The mutations analyzed are most common in the Caucasian population, and up to 90% of affected Caucasians will have a positive test result
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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