Genetic testing can confirm a muscular dystrophy (MD) diagnosis when symptoms and other tests already suggest MD. It also identifies specific gene mutations that can guide targeted treatment. Genetic ...

Genetic testing plays an important role in cystic fibrosis screening and diagnosis. It can help determine if a person has cystic fibrosis or carries gene mutations that cause it. Other tests can also ...

Genetic testing can be a fearful, daunting, overwhelming, exciting, or joyful experience. In many cases, the emotions of people who pursue genetic testing can be described with more than just one of ...

MINNEAPOLIS — By definition, a variant of unknown significance identified in an individual with cardiomyopathy can leave physicians wondering what to do with the information. Don’t discard so-called ...

Even though a large proportion of cancer patients carry genetic mutations that make them more susceptible to cancer, only a small percentage of them — and their family members — undergo potentially ...

Ms. Charité Ricker, MS, CGC and Dr. Nadine Tung, MD, FASCO share updates from the new ASCO guideline on selection of germline genetic testing panels in patients with cancer. They discuss highlights on ...

At Children's Hospital Colorado, Aurora, Colorado, pediatricians will soon have a new ally in diagnosing and identifying complex neurodevelopmental conditions like ...