Rapid genome sequencing identifies a greater number of unique diagnoses in infants with congenital heart disease compared with chromosomal microarray analyses. Rapid genome sequencing (rGS) identifies ...

FDA-NCI Clinical Proteomics Program, Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, Office of Cellular and Gene Therapy, Center for ...

Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic cause, and recent studies demonstrate the utility of genetic testing. In ...

SAN DIEGO, Feb. 26, 2026 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced highlights from Day 3 of Bionano Symposium 2026, entitled OGM Making its Mark in Constitutional ...

Neurofibromatosis type 1 (NF1) testing includes a thorough physical examination, genetic testing, and imaging studies. NF1 is a rare, autosomal dominant, inherited neurocutaneous disorder caused by ...

When Mabel Frimpong '27 was in 5th grade in Ghana, a young girl had a seizure while visiting her school. She was surprised when some students told her to avoid the girl, because they saw seizures as a ...

To assess the possibility that a foetus may be born with a genetic disorder or a pregnancy-related complication, prenatal screening is made available to all pregnant women. As a result, it assists in ...

CARLSBAD, Calif.--(BUSINESS WIRE)--Thermo Fisher Scientific Inc., the world leader in serving science, announced today that the Applied Biosystems™ CytoScan™ Dx Assay and Applied Biosystems™ ...

Testing for fetal alcohol syndrome helps identify individuals who may have been affected by alcohol exposure before birth, allowing for interventions that can improve their well-being. Share on ...

We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams‐Beuren syndrome (WS). When WS is excluded, gene ...

† McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States ‡ Department of Biological Chemistry, Johns Hopkins University ...

Bionano Genomics, Inc., announced significant upgrades to its pipeline for analysis of optical genome mapping data in its VIA™ software for applications in constitutional genetic disease. SAN DIEGO, ...