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GTR Home > Tests > Cardiac Arrhythmia Exome Panel


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
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? Help
AlignGVGD, PolyPhen-2, SIFT and CADD
What is the laboratory's policy on reporting novel variations? Help
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?Help
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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Practice guidelines

  • NICE, 2020
    UK NICE Diagnostics Guidance DG41, Implantable cardiac monitors to detect atrial fibrillation after cryptogenic stroke, 2020

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