Genetic testing for atrial septal defect

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Abstract

Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the atrial septum. About 1/3 of patients with Noonan syndrome caused by mutation in the PTPN11 gene have ASD. The prevalence of ASD is estimated at 100 per 100,000 live births. ASD may have autosomal dominant or recessive inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

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