SOS1 Sequencing

Test Background

Noonan syndrome (NS) is characterized by short stature, heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with pectus carinatum or pectus excavatum, cryptorchidism, characteristic facies, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Mutations in the PTPN11 gene are associated with Noonan syndrome and LEOPARD syndrome. Mutations in PTPN11 have been found in approximately 50% of patients with Noonan syndrome. Mutations specifically in exons 7, 12 and 13 of PTPN11 have been found in about 90% of patients with LEOPARD syndrome. Mutations in SOS1 have been found in approximately 10% of patients with Noonan syndrome. Mutations in RAF1 have been found in approximately 3.5-17% of patients with Noonan syndrome. Mutations in KRAS have been found in approximately 2-3% of patients with Noonan syndrome.

This laboratory performs Sanger sequencing of the SOS1 gene.

Gene(s)

SOS1

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.