GTR Test Accession:
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GTR000327529.2
Last updated in GTR:
2013-12-17
View version history
GTR000327529.2,
last updated:
2013-12-17
GTR000327529.1,
registered in GTR:
2013-12-17
Last annual review date for the lab: 2023-12-11
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (1):
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Hemochromatosis type 2A
Genes (1):
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HJV (1q21.1)
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
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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HJV HFE2A HFE2
Specimen Source:
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- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
Test Order Code:
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HJV HFE2A Hemojuvelin HFE2
Contact Policy:
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Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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EDTA-blood, DNA, other peripheral whole blood samples (not frozen). Other specimen after consultation.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Result interpretation
Genetic counseling
Result interpretation
Test additional service:
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Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Identified variants are documented in-house and are comprehensively evaluated using mutation databases and literature by scientific and medical directors.
Identified variants are documented in-house and are comprehensively evaluated using mutation databases and literature by scientific and medical directors.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Stepwise approach: 1.) Sequencing of exon 4 to detect Gly320Val
2.) Sequencing of the entire coding regions and flanking non-coding sequences. 3.) MLPA for deletion/duplication analysis.
Test Platform:
None/not applicable
Test Comments:
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Analysis of other genes for hereditary hemochromatosis and biochemical testing also available.
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 and specificity >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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A collection of bioinformatic tools.
Laboratory's policy on reporting novel variations Help
Novel variations are evaluated and reported if suspected relevant.
A collection of bioinformatic tools.
Laboratory's policy on reporting novel variations Help
Novel variations are evaluated and reported if suspected relevant.
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:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
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.