Apert Syndrome Variant Analysis

Test Background

Apert syndrome features include craniosynostosis, midface hypoplasia, and soft tissue and bony syndactyly of fingers and toes. Less common findings include rhizomelic shortening, fused cervical vertebrae, hydrocephalus, and cardiac or gastrointestinal defects. Approximately 50% of individuals have varying degrees of developmental delay/intellectual disability. This laboratory performs Sanger sequencing of exon 2 of the FGFR2 gene.

Gene(s): 

FGFR2

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.