In this post we’ll explore examples of these other genes that are not part of the ACMG’s recommended set, but are similar in that they have some associated actionability and could likewise impact medical management and decision making …
Given that genome sequencing has the potential to identify tens of thousands of variants in every patient sample tested, our GCs are often asked about how we handle incidental findings in our reporting. In this post we’ll explore the different types of possible findings and describe our reporting policies …
It’s well known that FXN repeat expansions cause Friedreich’s ataxia, but in certain cases, the affected individual is compound heterozygous for an expansion plus another pathogenic variant.
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