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GTR Home > Tests > Smith-Lemli-Opitz Syndrome


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
Variations are first classified based on frequency (according to databases such as 1000 Genomes and GnomAD). Rare variations are classified as VUS if: 1) the variation has not been reported previously and available information (effect prediction models, conservation scores and patient data) does not allow other classification; 2) there are conflicting or inconclusive reports from published studies regarding the possible effect of the variation. Where possible, ACMG recommendations for variant classification are applied.
What software is used to interpret novel variations? Help
Alamut® Visual (includes splice site prediction tools, SIFT, PolyPhen2, MutationTaster, frequency data).
What is the laboratory's policy on reporting novel variations? Help
Novel variations are interpreted in the context of the patient’s data as well as information known about the gene that it was found in. If possible association with patient’s phenotype is suspected, novel variations are reported with a short description of the possible effect and population frequencies.
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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Is research allowed on the sample after clinical testing is complete?Help
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