Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia ...

New York, NY—A large, multi-center clinical trial led by researchers from Columbia University Medical Center (CUMC) shows that a new genetic test resulted in significantly more clinically relevant ...

Microarray based comparative genomic hybridisation (array CGH) is a new technology with uses developing in various diagnostic areas within the NHS. One important context is the investigation of ...

Karyotype analysis includes complete chromosome analysis of at least twenty metaphases with at least two cut karyotypes. The presence or absence of an acquired clonal chromosomal abnormality may aid ...