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By Toni Lewis The use of whole-genome sequencing (WGS) in diagnostic testing brings up the topic of secondary findings or...

January 12, 2021 Clinicians at Variantyx, a leader in high complexity hereditary disease testing, recently completed analysis of their 2,500th...

In 2003, an international consortium of health institutes and government agencies completed “The Human Genome Project.” The significance of the...

It’s well known that FXN variants cause Friedreich’s ataxia – a progressive form of ataxia that usually affects individuals before 25 years...

In short, yes! But let’s take a step back and start with what mitochondrial disease is. We have to start...

We’ve previously looked at examples of the spectrum of genetic seizure disorders: ranging from syndromes where seizures are the only symptoms...

March is National Kidney Month, and Thursday March 12, 2020 is World Kidney Day. Both strive to raise awareness about kidney...

A couple of months ago we received an email from Danny Miller, founder of the MEPAN Foundation. He wrote with what,...

We’ve taken the approach of combining whole genome sequencing (WGS) with in-silico panel analysis for three key reasons: First, PCR-free...

Last week at the American Society of Human Genetics annual meeting we presented our poster on the clinical validation of our Genomic...