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Haemochromatosis (HFE) gene mutations
Clinical Genetic Test
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offered by
Molecular Diagnosis Centre
View lab's test page
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GTR Test Accession: Help GTR000334282.5
CAP
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2022-06-19
View version history
Last annual review date for the lab: 2024-07-02 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
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
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnosis Centre
View lab's website
View lab's test page
Test short name: Help
HFE
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
HFE
Lab contact: Help
Karen Tan, PhD, MBBS, PhD, FRCPath, Associate Consultant
karen_ml_tan@nuhs.edu.sg
65-6772-4175
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
Order URL
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
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
PCR with allele specific hybridization
EUROArray Haemachromatosis (2 SNP+) Direct
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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: NM_000410.3(HFE):c.845G>A (p.Cys282Tyr), NM_000410.3(HFE):c.187C>G (p.His63Asp)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% analytical specificity
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

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: Not Applicable
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.