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GTR Home > Tests > NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

Interpretation

Sample Negative Report

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Not provided

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
Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics. Prepared and edited by Jennie Bell, Danielle Bodmer, Erik Sistermans and Simon C Ramsden
What software is used to interpret novel variations? Help
Mutation surveyor or own pipeline for NGS
What is the laboratory's policy on reporting novel variations? Help
Novel variations suspected to be patogenic are included in the routine reports. VUS are also reported. Non pathogenic variations are NOT reported as well as VUS with MAF>3%
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
No
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes, We systematically (every 6-8 months) re-evaluated the data and re-contact the physician in case of new findings

Research

Is research allowed on the sample after clinical testing is complete?Help
Research is done after clinical test is complete for novel mutations. Informed consent for research is required.

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