GTR Test Accession:
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GTR000530670.1
Last updated in GTR: 2016-05-04
View version history
GTR000530670.1, last updated: 2016-05-04
Last annual review date for the lab: 2015-03-06
Past due
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (1):
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Primary familial hypertrophic cardiomyopathy
Genes (104):
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AARS2 (6p21.1), ACAD9 (3q21.3), ACADVL (17p13.1), ACTA1 (1q42.13), ACTC1 (15q14), ...
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Clinical features consistent with hypertrophic cardiomyopathy ; such as cardiac …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis;
Guidance for management;
Predictive risk information for patient and/or family members
Ordering Information
Offered by:
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Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- Plasma
- Saliva
- Serum
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Physician Assistant
- Public Health Mandate
How to Order:
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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
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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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Contact policy,
Test strategy
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 104
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Qiagen QIAcube
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Predictive;
Prognostic
Clinical utility:
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Establish or confirm diagnosis
Guidance for management
Predictive risk information for patient and/or family members
Guidance for management
Predictive risk information for patient and/or family members
Target population:
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Clinical features consistent with hypertrophic cardiomyopathy ; such as cardiac muscle wall thickening in the absence of other cardiac or systemic disease capable of causing the observed magnitude of hypertrophy. Early diagnosis is important since the disease is associated with a significant risk of sudden death and cardiovascular complications.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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1-Previously reported or identified in our lab 2-Reported in controls (from our lab, dbSNP, ENSEMBL, NHLBI GO ESP) 3-Functional studies 4-Variant affecting the same domain/close variants 5-Bioinformatics tools
1-Previously reported or identified in our lab 2-Reported in controls (from our lab, dbSNP, ENSEMBL, NHLBI GO ESP) 3-Functional studies 4-Variant affecting the same domain/close variants 5-Bioinformatics tools
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. We use to inform about any relevant update by e-mail. The update is always included in a new report made for a carrier relative.
Yes. We use to inform about any relevant update by e-mail. The update is always included in a new report made for a carrier relative.
Recommended fields not provided:
Clinical validity,
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 Confirmation:
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Sanger direct sequencing/ PCR
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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This test detects > 99% of substitution variants and small insertions and deletions.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations
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Own clinical database, SIFT, Polyphen, MutationTaster2, SSF, HSF, MaxEnt, NNSplice
Laboratory's policy on reporting novel variations Help
We inform about them in our test report
Own clinical database, SIFT, Polyphen, MutationTaster2, SSF, HSF, MaxEnt, NNSplice
Laboratory's policy on reporting novel variations Help
We inform about them in our test report
Recommended fields not provided:
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:
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Category:
Not Applicable
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
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