GTR Test Accession:
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GTR000522202.2
CAP
Last updated in GTR:
2022-04-08
View version history
GTR000522202.2,
last updated:
2022-04-08
GTR000522202.1,
registered in GTR:
2021-02-09
Last annual review date for the lab: 2024-05-22
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At a Glance
Test purpose:
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Diagnosis;
Prognostic;
Therapeutic management
Conditions (5):
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Cardiomyopathy, hypertrophic, midventricular, digenic;
Arrhythmogenic right ventricular cardiomyopathy;
Cardiomyopathy
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Genes (96):
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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
Individuals clinically diagnosed with a cardiomyopathy
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Licensed Physician
- Nurse Practitioner
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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To order a test, complete and submit a requisition form that can be found on our website (gps.wustl.edu)
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
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Decline to answer
Test strategy:
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Testing is performed by exome capture of the coding regions of relevant genes followed by next generation sequencing to detect small sequence variants. Starred tests (*) include additional testing for deletions and duplications by an alternate methodology (aCGH) when sequencing does not identify genetic variation consistent with a molecular diagnosis. …
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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,
Test development
Conditions
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Total conditions: 5
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 96
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 *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Prognostic;
Therapeutic management
Target population:
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Individuals clinically diagnosed with a cardiomyopathy
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
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
aCGH testing for the ALMS1, DSP and PKP2 genes is performed at an outside CAP/CLIA lab when sequencing does not identify any disease causing variants.
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
aCGH testing for the ALMS1, DSP and PKP2 genes is performed at an outside CAP/CLIA lab when sequencing does not identify any disease causing variants.
Analytical Validity:
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Sensitivity, specificity, and positive predictive value (PPV) of this test to detect single base-pair substitutions in coding regions were at least 96.6%,100.0%, and 99.3%, respectively, and were determined by comparison of the genotypes at known single-nucleotide polymorphisms determined by this assay from a HapMap DNA sample to the genotypes at …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation,
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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Not provided
Additional Information
Reviews:
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.