CDKL5 Sequencing

Test Background

Mutations in CDKL5 (aka STK9) have been termed atypical Rett syndrome, X-linked infantile spasm syndrome 2, and autism/mental retardation. Many individuals with a CDKL5 mutation have early onset encephalopathy and infantile spasms/seizure disorder as well as global developmental delay and intellectual disability. Other features may include hypotonia, scoliosis, microcephaly, lack of speech, stereotypic hand movements, and repetitive behaviors. In rare cases the only manifestations of the condition are mild mental retardation and autism spectrum disorder.

This laboratory performs Sanger sequencing of the CDKL5 gene.



About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

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