Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

ConclusionThe yield of genetic testing including microarray, fragile X (boys) and targeted gene panel was 12%. Gene panel did not increase diagnostic yield; however, we found an increase in rare variants in KIRREL3. Our findings reinforce the need for racial/ethnic diversity in large‐scale genomic databases used to identify variants that contribute to disease risk. We performed genetic testing including microarray, fragile X testing and targeted gene panel consistently sequencing 161 genes associated with ASD risk in a clinical population of 100 well characterized children with ASD. Copy number variants believed to contribute to ASD risk were identified in 12%.Gene panel did not increase diagnostic yield, however, we found an increase in rare variants in KIRREL3. Our findings also reinforce the need for racial/ethnic diversity in large‐scale genomic databases used to identify variants that contribute to disease risk.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Source: BMJ Comments - Category: General Medicine Source Type: forums
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