15q13.2-q13.3 Deletion/Duplication

Test Background

The deletion is associated with intellectual disability, autism, neuropsychiatric disorder, and mild dysmorphism. It is inherited in a subset of the cases with full penetrance, but variable expressivity. The duplication is associated with autistic spectrum disorder, neuropsychiatric disorders, and cognitive impairment. MLPA is utilized to detect this deletion/duplication.

Lab Method

MLPA

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.