Diagnostic génotypique direct au locus HFE (hémochromatose héréditaire) - Clinical Genetic Test - GTR

Genetic Testing Registry

View Advanced Search Options

Classic view of this page

Diagnostic génotypique direct au locus HFE (hémochromatose héréditaire)

Clinical Genetic Test

offered by

Laboratoire de Diagnostic Moleculaire

View lab's test page

GTR Test Accession: GTR000264968.11

CAP

INHERITED DISEASEMETABOLIC DISEASE

Last updated in GTR: 2020-05-27

Last annual review date for the lab: 2021-06-23 Past due

At a Glance

Test purpose:

Diagnosis; Mutation Confirmation

Conditions (1):

Hemochromatosis type 1

Genes (1):

HFE (6p22.2)

Methods (1):

Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization

Target population:

Confirmation of clinical diagnosis in patients with a high level …

Clinical validity:

Well known clinical validity

Clinical utility:

Establish or confirm diagnosis; Predictive risk information for patient and/or family members

Ordering Information

Offered by:

Laboratoire de Diagnostic Moleculaire
View lab's test page

Test short name:

HFE

Specimen Source:

Isolated DNA
Peripheral (whole) blood
View specimen requirements

Who can order:

Licensed Physician

Test Order Code:

HFE
View other test codes

LOINC codes:

21695-2,21696-0

**LOINC codes notice

Lab contact:

Jacqueline Dionne, BSc, Staff
jacqueline.dionne@chudequebec.ca
1-418-525-4444 ext 52426

Contact Policy:

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:

Specimen: 5 ml of blood in lavender top tube
Sending: < 72 hours, 2-8 degrees Celsius, monday to friday
Paper form
Please observe the CHU de Québec compliance criteria for specimen and form
Order URL

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
Comment: Specify if only H63D is requested
OrderCode: Hémochromatose

Test additional service:

Custom mutation-specific/Carrier testing

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Test strategy:

The C282Y mutation is tested first for all patients. Patients found C282Y heterozygotes are then tested for the H63D mutation. If you wish to test for H63D even in the absence of C282Y, please indicate on the form

View citations (1)

Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Bacon BR, et al. Hepatology. 2011;54(1):328-43. doi:10.1002/hep.24330. PMID: 21452290.

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument

Targeted variant analysis

PCR with allele specific hybridization

BioRad C1000

Clinical Information

Test purpose:

Diagnosis; Mutation Confirmation

Clinical validity:

Well known clinical validity

View citations (1)

Piperno A. Molecular diagnosis of hemochromatosis. Expert Opin Med Diagn. 2013;7(2):161-77. doi:10.1517/17530059.2013.763794. Epub 2013 Jan 23. PMID: 23530886.

Clinical utility:

Establish or confirm diagnosis

View citations (1)

"The diagnosis of clinical HFE-HH in individuals with clinical findings consistent with HFE-HH ...are typically based on... two HFE-HH-causing mutations on confirmatory HFE molecular genetic testing."

Predictive risk information for patient and/or family members

View citations (1)

"Although homozygotes for p.Cys282Tyr may have serum TS below 45% in early adulthood, they commonly develop an elevated serum TS over time ( Olynyk et al. 2004)."

Target population:

Confirmation of clinical diagnosis in patients with a high level of 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). Family history

View citations (1)

HFE-Associated Hereditary Hemochromatosis- GeneReviews-NCBI Bookshelf

Research:

Is research allowed on the sample after clinical testing is complete?
No

Recommended fields not provided:

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?, Sample negative report, Sample positive report

Technical Information

Test Procedure:

ASO-PCR

Test Confirmation:

For each allele, the normal sequence or the mutation is sought by two different allele-specific reactions (different primers) and independent (different reaction tubes). For each serie, internal controls of known genotypes are tested in parallel with new samples.

Test Comments:

Mutation panel: C282Y (845G>A), H63D (187C>G)
Test available only for residents of Canada

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Analytical sensitivity and specificity: >99%

Assay limitations:

Risk of erroneous result due to allele drop out measured at < 3:100000 samples

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method:
Proficiency testing specimens (3) are tested with the laboratory's regular workload, using routine methods.

Description of internal test validation method: Help
Initially, the method was validated with controls of known genotypes (inter-lab controls) For each allele, the normal sequence or the mutation is sought by two different allele-specific reactions (different primers) and independent (different reaction tubes). For each serie, internal controls of known genotypes are tested in parallel with new samples … View more

Recommended fields not provided:

Citations to support assay limitations, Citations to support internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

Genereviews

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View BMP2 variations in ClinVar

View HFE variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Practice guidelines:

EuroGenetest, 2010

Consumer resources:

MalaCards

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

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.