It’s a bit like giving the soil a DNA test.” A new droplet digital PCR (ddPCR) method quantifies root DNA directly from soil ...

Hoarding disorder is often described as if it might be “caused” by a single errant chromosome, but the trajectory of genetic research, from early linkage ...

Research led by RCSI University of Medicine and Health Sciences and University College Dublin (UCD) has identified immune ...

Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that studies featuring optical genome mapping (OGM) at the 2026 European Society of Human Genetics (ESHG) conference grew substantially compared ...

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 ...

Daniel Combs, MD, is an Assistant Professor of Pediatrics and Medicine at the University of Arizona. Clinical signs raise suspicion for Prader-Willi syndrome (PWS), but genetic testing confirms it.

After a decade of clinical assessments failed to meet DSM-5 criteria, a chromosomal microarray revealed the genetic truth behind a complex neurodevelopmental presentation. This question addresses a ...

We report a family with X-linked ichthyosis (XLI), in which the non-invasive prenatal testing (NIPT) results from the pregnant woman revealed a deletion of approximately 2 Mb at Xp22.31, confirmed by ...

Non-invasive prenatal testing (NIPT) has recently expanded to include sex chromosomal aneuploidies (SCAs) and copy number variations (CNVs), as well as the commonly screened trisomies (T21, T18, and ...

JA Rosenfeld is an employee of Signature Genomic Laboratories, a subsidiary of PerkinElmer, Inc. The authors have no other relevant affiliations or financial involvement with any organization or ...

Study of 99 pediatric patients found clinically significant CNVs in 30% of cases, supporting CMA as a first-tier test for developmental delay and ID. Clinically significant CNVs were identified in 30% ...