SPRED1 Deletion/Duplication

Test Background

Mutations in SPRED1 result in a Neurofibromatosis 1-like phenotype without the serious complications associated with NF. Patients with Neurofibromatosis 1-like phenotype usually present with multiple cafe-au-lait spots, axillary freckling, and macrocephaly. A minority of the patients have dysmorphic features resembling Noonan syndrome. It is inherited in an autosomal dominant manner. This laboratory performs both Sanger sequencing of the SPRED1 gene as well as deletion/duplication by MLPA.



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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