Researchers at the University of Sussex, in collaboration with scientists from different institutes worldwide, have ...

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...

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 ...

Background Current standard-of-care (SOC) methods for genetic testing are capable of resolving deletions and sequence variants, but they mostly fail to provide information on the breakpoints of ...

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 ...

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

Of the final sample, 31% of patients received at least one genetic test overall, but only 11% received concordant testing and at least one other test. Examining rates of genetic testing for autism ...

Each month, The Clinical Advisor makes one new clinical feature available ahead of print. Don’t forget to take the poll. The results will be published in the next month’s issue. Healthcare providers ...

Thoroughbred mares Rosalind (left) and Toppy (right) at the Baker Institute for Animal Health, Cornell University. Image credit: John Enright (Cornell University, Ithaca, NY). Studies beginning around ...