GTR Test Accession:
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GTR000560646.7
NYS CLEP
CAP
Last updated in GTR:
2023-03-31
View version history
GTR000560646.7,
last updated:
2023-03-31
GTR000560646.6,
last updated:
2022-05-10
GTR000560646.5,
last updated:
2022-04-22
GTR000560646.4,
last updated:
2020-04-27
GTR000560646.3,
last updated:
2018-04-26
GTR000560646.2,
last updated:
2018-04-03
GTR000560646.1,
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 (50):
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Progeroid and marfanoid aspect-lipodystrophy syndrome;
Acromicric dysplasia;
Adams-Oliver syndrome 5
more...
Genes (35):
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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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8789
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: 50
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 35
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
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.
Recommended fields not provided:
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
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
Reviews:
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.