A study led by the Research Institute of the McGill University Health Center (The Institute) has identified a rare genetic variant in the ODAD4 gene that causes primary ciliary dyskinesia (PCD), a ...

Noninvasive prenatal screening, involving analysis of fetal cell-free DNA in maternal blood, is currently available only for a small number of conditions caused by large chromosomal abnormalities.

Researchers from Karolinska Institutet and Maastricht University have developed a technique that enables the examination of embryos for all known genetic abnormalities with a single test. The new ...

What is the importance of family history collection in the setting of germline multigene panel testing, and what elements of family history are most important? When and how should multigene panel ...

New research assessing the efficacy of optical genome mapping (OGM) in a group of patients with acute leukemia has demonstrated that OGM provided reliable and robust analytical performance with high ...

Neurofibromatosis type 2 is most often diagnosed based on the presence of physical symptoms that are part of the specific diagnostic criteria for the disorder. Genetic testing for the NF2 mutation is ...

Many cases of idiopathic short stature in children may have a genetic cause. The first international guideline that guides ...

Compact genetic testing device could be used to detect a range of pathogens, or conditions including cancer. Compact genetic testing device created for Covid-19 could be used to detect a range of ...

Touching Base is the dynamic podcast series from the editors of GEN. Each episode features a rotating case of senior editors—including John Sterling, Kevin Davies, Julianna LeMieux, Alex Phillippidis, ...