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Sample Negative Report


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Sample Positive Report


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Variants Of Unknown Significance (VUS) Policy And 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
What software is used to interpret novel variations? Help
What is the laboratory's policy on reporting novel variations? Help
formal reports
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
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


Is research allowed on the sample after clinical testing is complete?Help
Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.