GTR Test Accession:
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GTR000560626.7
NYS CLEP
CAP
Last updated in GTR:
2023-03-31
View version history
GTR000560626.7,
last updated:
2023-03-31
GTR000560626.6,
last updated:
2022-05-03
GTR000560626.5,
last updated:
2022-04-22
GTR000560626.4,
last updated:
2020-04-27
GTR000560626.3,
last updated:
2019-04-23
GTR000560626.2,
last updated:
2018-04-26
GTR000560626.1,
registered in GTR:
2018-03-26
Last annual review date for the lab: 2024-03-22
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic
Conditions (91):
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Long QT syndrome 11;
Andersen Tawil syndrome;
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
more...
Genes (42):
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AKAP9 (7q21.2);
ANK2 (4q25-26);
CACNA1C (12p13.33);
CACNA2D1 (7q21.11);
CACNB2 (10p12.33-12.31)
more...
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity:
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Clinical validity depends on specific clinical and family history.
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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8900
How to Order:
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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 5555
OrderCode: 5555
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:
Lab contact for this test,
Contact policy,
Test strategy
Conditions
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Total conditions: 91
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 42
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
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;
Pre-symptomatic
Clinical validity:
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Clinical validity depends on specific clinical and family history.
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical utility,
Target population,
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?,
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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Single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing (Mu W et al. J Mol Diagn. 2016 Oct 4. PubMed PMID: 27720647). Gross deletion/duplication analysis is performed for all genes using a custom pipeline based on read-depth from NGS …
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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 is designed and validated to be capable of detecting >99% of described mutations in the gene(s) represented.
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:
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:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
64701
Status: Approved
Status: Approved
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
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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.