New structural variation sequencing reads long stretches of fetal DNA to pinpoint duplications, flips, and rearrangements, ...

Up to 10% of cancers are caused by genes that can be easily detected by commercially available tests. These include such common cancers as cancer of the breast, ovary, colon, stomach, uterus and ...

Researchers at Texas Children's Neurological Research Institute (NRI) and Baylor College of Medicine have developed a powerful new tool within the Genome Aggregation Database (gnomAD) to sharpen the ...

A new laboratory method developed by researchers at Columbia University Vagelos College of Physicians and Surgeons may now help physicians more quickly diagnose patients with suspected genetic ...

Despite rapid advances in genetic testing over recent decades, about half of people with a suspected Mendelian genetic disorder have no accurate diagnosis, while others may have to wait years for ...

Genetic tests for Alzheimer’s can detect specific genes linked to the disease. In most cases, they can’t definitively confirm or predict a diagnosis, but they can provide insight into your relative ...

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 ...