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See how our use of combined short and long-read WGS is improving diagnostic performance of testing for neurological disorders caused by repeat expansions.

For years scientists believed they knew where the causal gene for spinocerebellar ataxia (SCA4) could be found, but the identity...

Somatic testing of solid tumors has become the standard of care. Specific mutations in genes such as BRAF, EGFR, NTRK...

In its most basic form, ataxia is a neurological symptom. It’s defined specifically as a lack of muscle control or...

Fragile X syndrome (FXS) is one of the most common heritable forms of intellectual disability, occurring in approximately 1 in...

Edited by Kyle W. Davis, CGC and Marimac Moore In honor of Rare Disease Day 2022, we want to introduce...

Given that genome sequencing has the potential to identify tens of thousands of variants in every patient sample tested, our...

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...