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.
- 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? HelpList of the software applications that the lab uses to interpret novel variants. Examples for medical molecular genetics interpretation include: Melina II, MEME Suite, VISTACartagenia Bench, Alamut, SIFT, PolyPhen, Align-GVGD, GeneSplicer, laboratory proprietary internal software.
- Variant Studio 2.2
- 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).
- 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?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?)
- Not provided
- 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?
- 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.
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.
