VARIANTYX POSTS
Where did “Exome Plus” go?
Longtime customers familiar with our Genomic Unity® Exome Plus Analysis may be wondering where did it go? The short answer is that it’s still available. …
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.
Get to know the genes behind epilepsy
Today we’re taking a look at some important epilepsy-related genes for which testing can be particularly tricky due to their propensity for deletion and/or duplication variants and tandem repeat expansions …
National kidney month: Literature round up
This year we’re taking a survey of recent literature that’s influencing the way clinicians may approach genetic testing and treatment decisions for patients presenting with symptoms of kidney disorders now and in the future. Read on to learn with us …