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Autism Consortium study in Pediatrics shows CMA finds more genetic abnormalities than current tests
Date:3/14/2010

plex, with a variety of causes stemming from many possible genes or combinations of genes. In addition, since people with autism tend not to have children, most of the genes identified thus far aren't inherited from a parent, but instead are mutated during embryonic development, making them hard to track through traditional genetic studies in families. Clinical genetic testing is adding to the body of knowledge that researchers are using to understand the genetics of autism.

About the Genetic Testing Methods Evaluated

Current genetic testing recommendations include fragile X testing and G-banded karyotyping to look for chromosomal abnormalities as first tier tests, which reveal changes in up to 3-5% of patients who do not have an obvious genetic condition such as Down syndrome.

Chromosomal Microarray Analysis (CMA), also called array comparative genomic hybridization (aCGH), is a molecular method for detecting genomic copy number changes, or deletions and duplications.

Whole genome CMA detects clinically significant copy number changes in at least 10% of patients with a variety of developmental problems such as developmental delay, mental retardation, and multiple congenital anomalies. Research studies for patients with ASD suggest a similar detection rate of about 10% using CMA, but the diagnostic yield in large clinical cohorts had not been well investigated prior to this study. This study presents data on clinical genetic testing of a large cohort of ASD patients by G-banded karyotyping, fragile X testing, and CMA.


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Contact: Kathryn Morris
kathryn@proncall.com
845-635-9828
Autism Consortium
Source:Eurekalert

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