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Interpretation

Sample Negative Report

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Not provided

Sample Positive Report

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Not provided

Variants Of Unknown Significance (VUS) Policy And Interpretation

What is the protocol for interpreting a variation as a VUS? Help
The interpretation of a variation as a VUS is done according to the practice guidelines provided by the America College of Medical Genetics (ACMG; ACMG recommendations for standards for interpretation and reporting of sequence variations).
What software is used to interpret novel variations? Help
ALAMUT, integrating other programs (Polyphen-2, Mutation Taster, Alignment, ExPASy, BLAST) .
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
Not provided, We are performing a majority of carrier testing with reduced pricing and in selected cases at no cost.
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided

Research

Is research allowed on the sample after clinical testing is complete?Help
After clinical testing is completed, with the patient’s signed consent, Centogene utilizes and archives the sample according to all regulatory guidelines and standards.

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