VARIANTYX POSTS
ACMG secondary findings updated list for reporting of secondary findings, for medically actionable genes in clinical exome and genome sequencing
ACMG secondary findings updated list for reporting of secondary findings, for medically actionable genes in clinical exome and genome sequencing. The American College of …
Medically actionable genes that go beyond the ACMG set of 59
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 …
Unavoidable vs optional incidental findings: What you need to know
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 …
FXN: What you need to know for Friedreich’s ataxia patients
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.
Is WGS-based testing relevant for patients with suspected mitochondrial disease?
In short, yes! But let’s take a step back and start with what mitochondrial disease is.
Recent Posts
- ACMG secondary findings updated list for reporting of secondary findings, for medically actionable genes in clinical exome and genome sequencing
- Medically actionable genes that go beyond the ACMG set of 59
- Unavoidable vs optional incidental findings: What you need to know
- FXN: What you need to know for Friedreich’s ataxia patients
- Is WGS-based testing relevant for patients with suspected mitochondrial disease?