GTR Test Accession:
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GTR000592450.3
Last updated in GTR:
2023-07-21
View version history
GTR000592450.3,
last updated:
2023-07-21
GTR000592450.2,
last updated:
2023-03-21
GTR000592450.1,
registered in GTR:
2022-07-26
Last annual review date for the lab: 2024-08-01
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At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Conditions (47):
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Familial adenomatous polyposis 1;
Ataxia-telangiectasia-like disorder 1;
Birt-Hogg-Dube syndrome
more...
Genes (59):
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Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; Multiplex Ligation-dependent Probe Amplification (MLPA); ...
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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- Peripheral (whole) blood
- Saliva
Who can order: Help
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
Test Order Code:
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481308
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.
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,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 47
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 59
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
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;
Risk Assessment
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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The sensitivity of NGS/MPS is over 99% for the detection of single nucleotide variants, and over 85% for small/large deletions and insertions in the regions analyzed, the sensitivity of MLPA analysis is over 95% for the detection of deletions and duplications of complete exons in the regions analyzed, and the …
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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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Not provided
Additional Information
Suggested reading:
Clinical resources:
Molecular resources:
Practice guidelines:
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.