Interpretation
Not provided
Not provided
Variants Of Unknown Significance (VUS) Policy And Interpretation
- What is the protocol for interpreting a variation as a VUS? HelpDescription of how the laboratory handles Variants of Unknown Significance. This may be a general statement for the laboratory and not specific to this test.
- Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
- What is the laboratory's policy on reporting novel variations? HelpDescription of how the lab reports novel variations, it may include who gets contacted and how (ex. person ordering the test will be contacted via telephone as soon as VUS is identified).
- All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
- Are family members with defined clinical status recruited to assess
significance of VUS without charge?HelpDoes the laboratory offer testing for a variant of unknown significance to family members, free of charge? (Is test offered to affected individuals and/or presumed obligate carriers to help determine clinical significance of a VUS?)
- Decline to answer
- Will the lab re-contact the ordering physician if variant interpretation
changes? HelpDescription of laboratory procedures to monitor and address reinterpretation of genetic tests results over time, after issuing the report. Does laboratory systematically re-evaluate prior interpretations and generate new reports, or does the person ordering the test need to periodically recontact the labortory to inquire about changes in test interpretation?
- Decline to answer
Research
- Is research allowed on the sample after clinical testing is
complete?HelpAfter clinical testing is complete, does the laboratory perform any research testing using the submitted specimen? (Quality control is not considered as research for this question.)
- 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.
