17q12 Deletion/Duplication

Test Background

This deletion is associated with RCAD (renal cysts and diabetes) as well as pancreatic atrophy and liver abnormalities. Additionally, there have been reports of individuals with autism spectrum disorder, intellectual disability, macrocephaly, seizures, and recurrent infections. However, not all individuals with this deletion have neurological/cognitive problems. Therefore, there is incomplete penetrance. MLPA is utilized to detect this deletion.

Lab Method


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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