Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000570970.4
CAP
Last updated in GTR:
2023-09-29
View version history
GTR000570970.4,
last updated:
2023-09-29
GTR000570970.3,
last updated:
2023-09-13
GTR000570970.2,
last updated:
2022-10-06
GTR000570970.1,
registered in GTR:
2020-12-07
Last annual review date for the lab: 2024-08-30
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At a Glance
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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Specimen Source:
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- Fresh tissue
- Frozen tissue
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- Saliva
- Skin
- View specimen requirements
Who can order: Help
- Health Care Provider
Test Order Code:
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VANseq Test code LAB1920
View other test codes
View other test codes
How to Order:
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Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Contact policy,
Test strategy
Conditions
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Total conditions: 29
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 25
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?,
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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Target region includes coding exons and a minimum of 25 bp of flanking intron boundaries of the genes tested. Average coverage >1,000x, depth of coverage for all target regions is at least 20x. Sensitivity, specificity, and positive predictive value (PPV) of this test to detect single base-pair substitutions in coding …
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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
CAP Testing Information Help
Next-Generation Sequencing-Solid Tumor; Next-generation sequencing; NGSST
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
CAP Testing Information Help
Next-Generation Sequencing-Solid Tumor; Next-generation sequencing; NGSST
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
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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.