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Interpretation

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
Variants are classified using the Standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (Richards et al, 2015, PMID 25741868).
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
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Research

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.