GTR Test Accession:
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GTR000597395.1
Last updated in GTR: 2022-03-15
View version history
GTR000597395.1, last updated: 2022-03-15
Last annual review date for the lab: 2022-02-08
Past due
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At a Glance
Test purpose:
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Diagnosis
Conditions (60):
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Genes (33):
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AKAP9 (7q21.2);
ANK2 (4q25-26);
CACNA1C (12p13.33);
CACNA2D1 (7q21.11);
CACNB2 (10p12.33-12.31)
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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
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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Cardiac
Who can order: Help
- Health Care Provider
Test Order Code:
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DN-03
Test service:
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Custom Sequence Analysis
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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No
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy
Conditions
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Total conditions: 60
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 33
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
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
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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>99% (95% CI) for base substitutions and small indels, and >95% (95% CI) for CNV. Balanced translocations, inversions and intronic variants located outside splice site shall not be detected.
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,
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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Category:
Not Applicable
Additional Information
Suggested reading:
Clinical 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.