GTR Test Accession:
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GTR000159973.2
Last updated in GTR:
2023-05-22
View version history
GTR000159973.2,
last updated:
2023-05-22
GTR000159973.1,
registered in GTR:
2020-12-24
Last annual review date for the lab: 2024-05-15
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Risk Assessment
Conditions (1):
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Hemochromatosis type 1
Genes (1):
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HFE (6p22.2)
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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HFE
Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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2450
Lab contact:
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Contact Policy:
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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:
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Specimen type:whole blood container/tube. EDTA specimen, minimum volume: 3mL, specimen volume: full tube.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 2450
OrderCode: 2450
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Targeted variant analysis
PCR with allele specific hybridization
Roche LightCycler 480
Clinical Information
Test purpose:
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Diagnosis;
Risk Assessment
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 Platform:
None/not applicable
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity 100% Analytical specificity 100%
View citations (1)
- Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR. Moysés CB, et al. Braz J Med Biol Res. 2008;41(10):833-8. doi:10.1590/s0100-879x2008001000001. PMID: 19030706.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Clinical resources:
Practice guidelines:
Consumer resources:
IMPORTANT NOTE:
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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.