GTR Test Accession:
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GTR000607941.1
Registered in GTR:
2023-07-20
View version history
GTR000607941.1,
registered in GTR:
2023-07-20
Last annual review date for the lab: 2024-07-01
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (63):
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Coronary artery disease, autosomal dominant, 1;
Atrial fibrillation, familial, 1;
Atrial fibrillation, familial, 10
more...
Genes (102):
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Methods (4):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals with clinical symptoms consistent with Coronary artery disease risk, …
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 Order Code:
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KHMDCVGPCAD1
Informed consent required:
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Decline to answer
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:
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 63
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 102
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 4
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Detection of homozygosity
Oligonucleotide hybridization-based DNA sequencing
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Prognostic;
Risk Assessment;
Screening;
Therapeutic management
Target population:
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Individuals with clinical symptoms consistent with Coronary artery disease risk, Hypertrophic cardiomyopathy risk, Arrhythmia, Brugada Syndrome, Atrial fibrillation, Long QT syndrome, Ventricular Arrhythmia, Cardiac Channelopathies, Familial Hypercholesterolemia or individuals with distorted lifestyle factors
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Repeatability and reproducibility of alterations associated with this test
were evaluated. The results confirmed that the test is robust regarding repeatability and
reproducibility of variant calling. Across all samples, the pre-sequencing process failure was
≤ 1%. All variants from all samples were consistent by 99.9%.
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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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.