Medically reviewed by Daniel Combs, MD Clinical signs raise suspicion for Prader-Willi syndrome (PWS), but genetic testing ...

Fetal copy-number variants (CNVs) have been associated with a broad range of phenotypes and pregnancy outcomes. Noninvasive prenatal screening using genome-wide cell-free (cf) DNA analysis offers an ...

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 ...

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. The current study explored the role of genetic ...

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 ...

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