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GIST Profile
Clinical Genetic Test
Help
offered by
GoPath Diagnostics
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GTR Test Accession: Help GTR000591198.1
CANCERDIGESTIVE SYSTEMINHERITED DISEASE ... View more
Last updated in GTR: 2020-07-09
View version history
Last annual review date for the lab: 2023-06-14 LinkOut
At a Glance
Test purpose: Help
Prognostic; Therapeutic management
Conditions (1): Help
Gastrointestinal stromal tumor
Genes (3): Help
BRAF (7q34), KIT (4q12), PDGFRB (5q32)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: PCR
Target population: Help
Patients with Gastrointestinal Stromal Tumors
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
GoPath Diagnostics
View lab's website
View lab's test page
Test short name: Help
GIST
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
GIST
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
download solid tumor requisition. contact our client services to set up shipping and order.
Order URL
Test service: Help
molecular genomic testing
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
PCR
ABI 3130XL Genetic Analyzer
Clinical Information
Test purpose: Help
Prognostic; Therapeutic management
Target population: Help
Patients with Gastrointestinal Stromal Tumors
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Interpretation and classification of clinical significance of the detected variant are based on catalogued information from the NCBI ClinVar database (http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/clinvar/variation/), LOVD database (http://databases.lovd.nl/ shared/genes/) and other locus specific databases as well as information from published literatures

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. our GeneticsNow service covers it all - please use our website www.gopathlabs.com
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Test Platform:
NextGene
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
KIT: The assay identified 1 mutation from the FFPE specimens and give 100% sensitivity and 100% specificity of the assay. Sensitivity=TP/(TP+FN)x100=1/(1+0)x100=100% Specificity=TN/(TN+FP)x100=1/(1+0)x100=100% BRAF: The assay identified 1 mutation from the FFPE specimens and give 100% sensitivity and 100% specificity of the assay. Sensitivity=TP/(TP+FN)x100=1/(1+0)x100=100% Specificity=TN/(TN+FP)x100=1/(1+0)x100=100% PDGFR: The assay identified 1mutations from … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
CAP
VUS:
Software used to interpret novel variations Help
NextGENe

Laboratory's policy on reporting novel variations Help
formal reports
Recommended fields not provided:
Test Confirmation, 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
Not provided
Additional Information

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.