Parents searching for a genetic diagnosis for their child with autism now have a new option: a test that analyzes 62 different genes linked to syndromic autism, meaning cases of the disorder caused by mutation of a single gene.

A new study published in the Journal of Genetic Counseling confirms the relative infrequency of genetic testing for autism.

Researchers have developed a tool that can predict whether DNA mutations that change a single base pair are likely to alter RNA splicing, a process that modifies the sequence of mRNA, the genetic message that codes for protein. The results were published 10 February in Bioinformatics.

A survey asks clinical geneticists what type of incidental findings should be returned to people who have their genomes sequenced.

Prenatal genetic tests that can detect copy number variations, including those linked to autism, could raise tough questions for doctors and parents.

Researchers have identified the genetic root of severe mitochondrial disorders in infants whose cases couldn’t be solved by standard genetic testing, according to research published last week in Science Translational Medicine.

Dried spots of blood taken from infants at birth can help clinicians screen for fragile X syndrome in countries with limited resources, according to a study published 11 October in Genetic Testing and Molecular Biomarkers.

In a study of people missing an autism-linked region on chromosome 22, researchers have found that the larger the deletion, the more likely the individual is to have severe symptoms, from motor and speech delays to a large head and fleshy hands.

Duplications and deletions of genetic regions linked to autism are rare in individuals referred for genetic testing, but occur at a higher rate than in the general population.

Researchers have developed standard genetic reference samples that clinicians can use to diagnose Angelman and Prader-Willi syndromes, two disorders associated with the same chromosomal region.