Classic view of this page
HFE-Associated Hereditary Hemochromatosis
Clinical Genetic Test
Help
offered by
Molecular Genetics Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000021488.6
CAP
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2024-02-07
View version history
Last annual review date for the lab: 2024-02-07 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Recurrence; Risk Assessment
Conditions (1): Help
Hemochromatosis type 1
Genes (1): Help
HFE (6p22.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR with single primer extension.
Target population: Help
The diagnosis of clinical HFE-HH in individuals with clinical findings …
Clinical validity: Help
Targeted mutation analysis for the two most common disease-causing alleles …
Clinical utility: Help
Establish or confirm diagnosis; Guidance for management; Lifestyle planning
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
View lab's test page
Test short name: Help
HFE
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
Hemochromatosis (HFE)
Lab contact: Help
Gavin Giles, MSc, Administrator
gavin.giles@lhsc.on.ca
+1-519-685-8500 x36339
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
Please complete the requisition found on the website and ensure it is signed by the referring physician
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
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 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 single primer extension.
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Recurrence; Risk Assessment
Clinical validity: Help
Targeted mutation analysis for the two most common disease-causing alleles in HFE (p.Cys282Tyr and p.His63Asp) is available on a clinical basis [Feder et al 1996]. 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)
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)

Guidance for management
View citations (2)

Lifestyle planning
View citations (2)

Target population: Help
The diagnosis of clinical HFE-HH in individuals with clinical findings consistent with HFE-HH and the diagnosis of biochemical HFE-HH are typically based on finding elevated transferrin-iron saturation 45% or higher and serum ferritin concentration above the upper limit of normal (i.e.,>300 ng/mL in men and >200 ng/mL in women) and … View more
View citations (1)
  • Barton JC, Parker CJ. Related Hemochromatosis. 2000 Apr 03 [updated 2024 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301613.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
NA

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No.
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Mutation panel: p.C282Y, p.H63D
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Targeted mutation analysis of the C282Y and H63D variants utilizes an Agena iPLEX custom panel followed by SpectroCHIP® Array detection using the MassARRAY System (Agena). Amino acid numbering is based on GenBank Accession U60319.
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

Description of PT method: Help
Proficiency testing assessed in bi annual surveys of 3 samples. Results are reported to CAP who independently assess the results and issue a report on the success of the submitted data. Reports are signed off by the laboratory leader.
VUS:
Software used to interpret novel variations Help
NA

Laboratory's policy on reporting novel variations Help
NA
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, 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.