chromosomal microarray
Scientists from the University of Florence in Italy applied nanopore sequencing to effectively detect known copy number variants in a small cohort of patients.
The package comprises a battery of genetic tests to detect an array of developmental delays, intellectual disabilities, and autism spectrum disorders.
EHR-Based Model Predicts Patients Who May Benefit from Genetic Testing for Rare Disease
Researchers from Vanderbilt University Medical Center said their approach could systematize who undergoes testing and shorten diagnostic odysseys.
CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients
Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.
Small Portion of Individuals With Autism Undergo Recommended Clinical Genetic Testing
Individuals with autism spectrum disorder who were younger or with a more severe condition were more likely to undergo genetic testing, a new analysis has found.