GTR Test Accession:
Help
GTR000560549.8
NYS CLEP
CAP
Last updated in GTR:
2023-04-07
View version history
GTR000560549.8,
last updated:
2023-04-07
GTR000560549.7,
last updated:
2022-05-03
GTR000560549.6,
last updated:
2022-04-22
GTR000560549.5,
last updated:
2021-04-22
GTR000560549.4,
last updated:
2020-04-27
GTR000560549.3,
last updated:
2019-04-22
GTR000560549.2,
last updated:
2018-04-26
GTR000560549.1,
registered in GTR:
2018-03-23
Last annual review date for the lab: 2024-03-22
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Pre-symptomatic
Conditions (7):
Help
Genes (2):
Help
APC (5q22.2);
MUTYH (1p34.1)
Methods (2):
Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity:
Help
Clinical validity depends on specific clinical and family history.
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Bone marrow
- Fibroblasts
- Isolated DNA
- Semen
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
Help
8726
Lab contact:
Help
How to Order:
Help
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 5555
OrderCode: 5555
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
Based on applicable state law
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
Contact policy,
Test strategy
Conditions
Help
Total conditions: 7
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 2
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 2
Method Category
Help
Test method
Help
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:
Help
Diagnosis;
Pre-symptomatic
Clinical validity:
Help
Clinical validity depends on specific clinical and family history.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
Help
Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Yes.
Yes.
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:
Help
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 …
View more
Test Comments:
Help
Prenatal testing may be available. Please contact the lab for details.
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
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?
Help
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:
Help
Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
Help
Number:
73884
Status: Approved
Status: Approved
Additional Information
Suggested reading:
Clinical resources:
Molecular resources:
Practice guidelines:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
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.