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GTR Home > Tests > Tuberous Sclerosis Gene Panel

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
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
What software is used to interpret novel variations? Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, gene-specific online databases, ISCA, UCSC Genome Browser
What is the laboratory's policy on reporting novel variations? Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
Yes, Contact lab for details
Will the lab re-contact the ordering physician if variant interpretation changes? Help
No, The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.

Research

Is research allowed on the sample after clinical testing is complete?Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • Orphanet, 2007
    Orphanet, Tuberous sclerosis, 2007

Consumer resources

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.