A 10-year study shows that a multipronged approach using whole exome sequencing can improve diagnostic yield in patients with ...

Becca Tomlinson underwent a double mastectomy after finding out she inherited a faulty gene.

My son, who’s almost 3, is asymptomatic and thriving. His syndrome mostly just means annual visits to a C.F. clinic for monitoring. But for future pregnancies, we are debating whether we should do I.V ...

Adult survivors of childhood cancers are at higher risk for another cancer—such as breast, colorectal, sarcomas and thyroid ...

A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Insurance covers some genetic tests, such as BRCA tests for breast cancer, if you meet certain requirements. Find Cheap Health Insurance Quotes in Your Area But there are about 70,000 different ...

NIH study is trying to find answers. BAR HARBOR, Maine, Aug. 1, 2008— -- With new genetic testing available, researchers can calculate whether you have an increased risk for diabetes, breast ...