GeneDx has introduced sequencing and array-based testing for mutations in KRIT1, CCM2, and PDCD10, three genes associated with cerebral cavernous malformations.

CCMs are central nervous system vascular lesions formed by a cluster of grossly dilated blood vessels. Features and symptoms can include seizures, epilepsy, focal neurological deficits, chronic headaches, stroke, and cerebral hemorrhage

A mutation in one of the three genes is identified in 78 percent of individuals with a clinical diagnosis and family history of CCM, according to GeneDx.

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