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Tag: genetic testing

May 2012
News

Chromosome exchanges reveal new autism-related genes

by  /  3 May 2012

Large-scale swapping of genetic material between chromosomes may play an important role in autism, according to a study published 27 April in Cell.

1 Comment
April 2012
Opinion

New diagnostic

by  /  17 April 2012

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.

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March 2012
Opinion

Uncommon testing

by  /  27 March 2012

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

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News / Toolbox

Online tool can predict effects of genetic variants

by  /  21 March 2012

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.

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Opinion

Incidental findings

by  /  16 March 2012

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

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News

More sensitive prenatal tests detect autism-linked variants

by  /  12 March 2012

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

1 Comment
January 2012
News

Sequencing identifies source of mitochondrial disorders

by  /  30 January 2012

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.

1 Comment
December 2011
News / Toolbox

Quick test for fragile X may be ideal for developing nations

by  /  21 December 2011

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.

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November 2011
News

Genetics: Size of 22q13 deletion predicts clinical features

by  /  4 November 2011

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.

1 Comment
October 2011
News

Genetics: Rare mutations slightly more common in autism

by  /  5 October 2011

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.

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