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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
Our policy to report the meaning of unknown variants (VIRUS) is as follows: 1. If it is a exonic variant verify the results of the SIFT and PolyPhen algorithms; 2. For all VUS conducted a bibliographic research to see if there is information in the literature; 3. All VUS are reported in the reports, with all the details and possibilities of impacts in the studied disease; 4. We note with the doctor the possibility of restricting the search to subphenotypes, reducing the number of VUS.
What software is used to interpret novel variations? Help
Variant Studio 2.2
What is the laboratory's policy on reporting novel variations? Help
Our policy for new variants is as follows: 1. To study deeply the new variant and its possible impacts on the phenotype; 2. Add the new variant to the laboratory database; 3. Report the new variant and its details in the report, making it clear that this is new variant.
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
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Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes, From the data contained in the test request form, we get the phone or email the doctor and got in touch to request new information or discuss the possibility of researching other genes and phenotypes. This procedure has been well accepted by physicians and improved the information in the reports.


Is research allowed on the sample after clinical testing is complete?Help
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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.