As more people start to opt for genetic carrier testing ahead of conception, doctors and parents-to-be are facing difficult ...

Molecular testing, or molecular diagnostics, refers to a group of tests that look at the genetic material in a specimen. It can detect genetic risk factors for certain diseases or provide evidence of ...

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 ...

In a recent study published in the Journal of American Medical Association (JAMA) Oncology, researchers from California investigated the diagnostic outcomes of concurrent sequencing of ...

The KAUST-developed technology uses simple molecular biology strategies to seek out the genomic regions that are suspected of harboring complex mutations, deletions or rearrangements. Despite rapid ...

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.

In 2024 Stephen Rich and his colleagues published a study in which they assessed the genetic risk of developing type 1 ...

One way to get ahead of that diagnosis is genetic testing. There are 13 gene mutations related to breast cancer, according to Doctor Leonard Henry, medical director of Lewis Cancer Research Pavilion.

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, ...

Please provide your email address to receive an email when new articles are posted on . Over the past 2 decades, a large body of research has shed light on the molecular determinants of many human ...

The prenatal and newborn genetic testing market is expanding due to technological advancements in non-invasive methods, rising awareness of genetic disorders, and supportive policies. Key ...