GTR Test Accession:
Help
GTR000514909.6
NYS CLEP
Last updated in GTR:
2017-06-04
View version history
GTR000514909.6,
last updated:
2017-06-04
GTR000514909.5,
last updated:
2016-09-12
GTR000514909.4,
last updated:
2016-08-24
GTR000514909.3,
last updated:
2016-08-04
GTR000514909.2,
last updated:
2015-07-29
GTR000514909.1,
registered in GTR:
2014-07-29
Last annual review date for the lab: 2023-10-10
Past due
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Pre-symptomatic;
Therapeutic management
Conditions (9):
Help
Genes (5):
Help
EPCAM (2p21);
MLH1 (3p22.2);
MSH2 (2p21-16.3);
MSH6 (2p16.3);
PMS2 (7p22.1)
Methods (2):
Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
Test Order Code:
Help
1702
CPT codes:
Help
Contact Policy:
Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
Order URL
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Genetic counseling
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
Based on applicable state law
Test strategy:
Help
Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required:
Help
No
Post-test genetic counseling required:
Help
No
Recommended fields not provided:
Lab contact for this test
Conditions
Help
Total conditions: 9
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 5
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;
Therapeutic management
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
Help
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more
Are family members with defined clinical status recruited to assess significance of VUS without charge?
Help
Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Confirmation:
Help
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods.
Availability:
Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods at an outside lab.
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods at an outside lab.
Analytical Validity:
Help
Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Laboratory's policy on reporting novel variations
Help
Novel variations are described in our clinical report to the ordering clinician. The report documents the evidence and logic supporting the interpretation of any novel variations.
Novel variations are described in our clinical report to the ordering clinician. The report documents the evidence and logic supporting the interpretation of any novel variations.
Recommended fields not provided:
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:
Help
Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
Help
Number:
8884
Status: Approved
Status: Approved
Additional Information
Suggested reading:
Clinical 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.