GTR Test Accession:
Help
GTR000528058.1
Registered in GTR:
2015-09-03
View version history
GTR000528058.1,
registered in GTR:
2015-09-03
Last annual review date for the lab: 2024-07-23
LinkOut
At a Glance
Test purpose:
Help
Mutation Confirmation;
Pre-symptomatic;
Prognostic; ...
Conditions (3):
Help
Hereditary diffuse gastric adenocarcinoma;
Breast adenocarcinoma;
Breast lobular carcinoma
Genes (1):
Help
CDH1 (16q22.1)
Methods (2):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequencing; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Hereditary Gastric Cancer
Clinical validity:
Help
Not provided
Clinical utility:
Help
Guidance for management
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Peripheral (whole) blood
Who can order: Help
- Health Care Provider
- Licensed Physician
- Physician Assistant
- Public Health Mandate
Lab contact:
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.
How to Order:
Help
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
Help
No
Pre-test genetic counseling required:
Help
No
Post-test genetic counseling required:
Help
No
Recommended fields not provided:
Test Order Code,
Test strategy,
Test development
Conditions
Help
Total conditions: 3
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
Help
Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
Help
Test method
Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequencing
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Applied Biosystems 3130 Genetic Analyzer
Clinical Information
Test purpose:
Help
Mutation Confirmation;
Pre-symptomatic;
Prognostic;
Risk Assessment;
Screening;
Therapeutic management
Clinical utility:
Help
Guidance for management
Target population:
Help
Hereditary Gastric Cancer
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
Help
No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Yes.
Yes.
Recommended fields not provided:
Clinical validity,
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
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
yes 100%
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
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:
Help
Not provided
Additional Information
Suggested reading:
Clinical resources:
Molecular resources:
Practice guidelines:
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.