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 ...

Researchers have developed a non-invasive genetic test that can screen the blood of pregnant individuals to survey all genes from the fetal genome. A team of investigators from Massachusetts General ...

For many diseases and chronic conditions, an individual's genes play a role in their likelihood of developing the disease. While some inherited diseases, such as cystic fibrosis or sickle cell anemia, ...

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 ...

Rare diseases are hard to diagnose and often require costly genetic testing and visits to specialists. The testing can be hard to access, especially for people who live in rural areas. Researchers at ...

Genetic testing for chronic myeloid leukemia (CML) can tell doctors if someone has leukemia, what type they may have, and whether treatment is working. The tests look for atypical changes in certain ...

In a recent article published in BMC Medical Genomics, researchers recruited a cohort of 25 Chinese genodermatoses patients to examine the genetic etiology by whole-exome sequencing (WES). They ...