Genetic Testing for Cerebral Cavernous Malformations

Cerebral cavernous malformation (CCM) is a heterogenous disorder that arises from malformed capillary clusters within the central nervous system. Without support of the surrounding brain parenchyma and weakened epithelial walls, blood vessels are prone to leakage. Clinical symptoms range from non-specific headaches to seizures and cerebral hemorrhaging. Diagnostic testing of the three known genes (KRIT1, CCM2, PDCD10) identifies a mutation in ~78% of patients with a family history of CCM. Sequence and deletion/duplication analysis of the KRIT1, CCM2, and PDCD10 genes is available and can be ordered in a tiered manner.