Blog

October 30, 2020

FXN: What you need to know for Friedreich’s ataxia patients

It’s well known that FXN variants cause Friedreich’s ataxia – a progressive form of ataxia that usually affects individuals before 25 years...
September 17, 2020

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. We have to start...
August 10, 2020

Get to know the genes behind epilepsy

We’ve previously looked at examples of the spectrum of genetic seizure disorders: ranging from syndromes where seizures are the only symptoms...
March 18, 2020

National kidney month: Literature round up

March is National Kidney Month, and Thursday March 12, 2020 is World Kidney Day. Both strive to raise awareness about kidney...
February 26, 2020

Flexible in-silico panel expansion: A MEPAN case study

A couple of months ago we received an email from Danny Miller, founder of the MEPAN Foundation. He wrote with what,...
February 18, 2020

3 strengths of WGS-based in-silico panel analysis

We’ve taken the approach of combining whole genome sequencing (WGS) with in-silico panel analysis for three key reasons: First, PCR-free...
October 19, 2019

Whole genome clinical validation study

Last week at the American Society of Human Genetics annual meeting we presented our poster on the clinical validation of our Genomic...
September 23, 2019

Disease predisposition risk: what to consider beyond cancer

In our previous post, we took a look at screening for cancer predisposition risk. Specifically delving into coverage of breast cancer...
September 9, 2019

Cancer predisposition variants: looking beyond BRCA1/2

Everyone has some risk of developing cancer. In fact, nearly 40% of people will be diagnosed with cancer at some...
September 2, 2019

September is Healthy Aging Month!

Because it’s never too early or too late to ensure we’re on the right path with our health, we’re using...