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GTR Home > Tests > Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 via the PIGA Gene


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
The PreventionGenetics protocol for interpreting sequence variants has been carefully developed over a period of 10 years. We are conservative in our interpretations. We do not label a variant as pathogenic or benign without conclusive evidence. Although we use a variety of software to assist us in interpretation, we rely primarily on evidence published in the literature, on control allele frequencies (especially from the 1000Genomes and Exon Sequencing Project), and on genetic evidence. Programs that predict pathogenicity or splicing are given much less weight.
What software is used to interpret novel variations? Help
GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.
What is the laboratory's policy on reporting novel variations? Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
Yes, Please visit our website for details at https://www.preventiongenetics.com/forms.php for Targeted variant tests.
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes, Please visit our website for details http://preventiongenetics.com/


Is research allowed on the sample after clinical testing is complete?Help
Not provided

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