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 ...

The genetic factors underlying congenital heart disease and heterotaxy (CHD/HTX) are complex, including copy number variants, loss-of-function mutations, and missense variants, many of which can be ...

Separate studies led by scientists at Dartmouth Hitchcock Medical Center (DMHC) and Queens University offer some clarity about the hidden causes of recurrent pregnancy loss. Data from both studies is ...

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% ...

Molecular testing, including chromosomal microarray analysis, distinguishes between aggressive and indolent kidney cancer subtypes, aiding in accurate diagnosis. Accurate diagnosis is critical for ...

Higher levels of tetrahydrocannabinol, or THC — a chemical in marijuana that produces a euphoric feeling or “high” — was linked with changes in how eggs mature and a possible increase in chromosome ...

Taking a pregnancy test too early can produce a false negative result. And the prospect of a major life change like pregnancy is a time when you want to make sure you're getting the most accurate ...

A new study shows that a simple blood test can outperform traditional exams when it comes to determining whether Alzheimer’s is responsible for memory problems, accurately diagnosing the disease about ...