fragile X syndrome
The package comprises a battery of genetic tests to detect an array of developmental delays, intellectual disabilities, and autism spectrum disorders.
Repeat Expansion Disease Diagnosis From Targeted Long Reads Shows Potential for Clinical Use
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Australian researchers have developed a nanopore sequencing test that can detect more than 50 neurological and neuromuscular diseases caused by STR expansions.
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.
DNA Methylation Mapping in Genetic Syndromes Leads to Disease-Specific Episignatures
Researchers identified 34 episignatures that could be used for diagnostic testing and the interpretation of ambiguous genetic test results.
Asuragen Fragile X Diagnostic Test Gets FDA Authorization
The firm's AmplideX Fragile X Dx and Carrier Screen Kit is intended to help diagnose fragile X syndrome and assess parental risk of having a child with the syndrome.