Blog

May 29, 2019

Spotlight on Huntington’s disease

Huntington’s disease is a late-onset, neurodegenerative disorder. Symptoms typically first appear in the 30’s or 40’s, progressively worsening over a...
May 15, 2019

Spotlight on hereditary peripheral neuropathies

Peripheral neuropathy, or simply neuropathy, describes any condition that affects the normal activity of the network of nerves that form...
March 13, 2019

Spotlight on hereditary kidney disorders

Overwhelmingly, most cases of kidney disease are the result of complications of diabetes or high blood pressure. However, roughly 10%...
February 28, 2019

Introducing the RareDx program

Today we’re observing Rare Disease Day® 2019. We’re joining more than 100 organizations world-wide in the worthy cause of raising awareness...
January 9, 2019

Expanded coverage of repeat expansion loci

With a growing number of different pathogenic repeat expansions linked to human disease, genetic testing for this unique class of...
December 12, 2018

Spotlight on Epilepsy

Epilepsy is a neurological disorder in which abnormal brain activity results in seizures. Signs and symptoms of seizures are not...
September 19, 2018

Spotlight on Duchenne and Becker muscular dystrophies

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are related disorders that are characterized by progressive degeneration and weakening...
September 5, 2018

Comprehensive hereditary cancer screening: Know the sequencing technology being used

Everyone has some risk of developing cancer. Most often cancer is caused by mutations that arise as a consequence of...
August 22, 2018

Detecting short tandem repeats using WGS

In this week’s post we’re taking a closer look at short tandem repeats (STRs) and how they’re detected using whole...