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.
- Each variant is interpreted on an individual basis using techniques such as review of internal and public databases, prior reports in medical literature, sequence conservation, and predicted functional significance. Familial segregation testing to help interpret variants is offered on a case-by-case basis. Variants were assessed for pathogenicity using available information from the following databases (ClinVar, HGMD, LSDBs, NHLBI Exome Sequencing Project, 1000 Genomes, dbSNP and EXAC), published literature, clinical correlation, segregation analysis, functional studies and predicted functional or splicing impact using evolutionary conservation analysis and computational tools
- 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.
- AlignGVGD, PolyPhen-2, SIFT and CADD
- 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).
- Lab policy on reporting novel variations The lab follows guidelines published as ACMG recommendations of standards for interpretation and reporting of sequence variants. (Richards S et al Genet Med 2015)
- 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?)
- Yes
- 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?
- Not provided
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
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