Craniosynostosis Panel

The Craniosynostosis Panel analyzes genes that are associated with syndromic and nonsyndromic craniosynostosis. These conditions are characterized by the early fusion of one or more sutures in the skull, which is accompanied by additional features in syndromic forms. These genes were selected based on the available evidence to date to provide a broad analysis for inherited craniosynostosis. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling. Some genes in this test may be associated with additional disorders unrelated to this panel; such additional conditions are not included in the list of disorders tested.