The cerebral cavernous malformations, CCM1 (MIM 116860), CCM2 (MIM 603284), and CCM3 (MIM 603285), are autosomal dominant disorders caused by mutations in the KRIT1, CCM2, and PDCD10 genes, respectively.  Cerebral cavernous malformations are loosely organized vascular channels that are devoid of intervening nervous tissue. These malformations are primarily intracerebral, but they may also be localized to other areas of the central nervous system.  Many individuals with CCMs are clinically asymptomatic; however, these malformations can cause headaches, seizures, intracranial hemorrhage, intracranial calcifications and focal neurological deficits.  Individuals with a family history of CCM frequently have multiple malformations, while single lesions are more often seen in patients with no family history of CCM.  Vascular malformations involving other tissues and organs, including the retina, liver, soft tissues and skin, have also been reported in patients with CCM.

The cerebral cavernous malformations NGS panel consists of three genes: KRIT1, CCM2, and PDCD10.

Copy number variation (CNV) analysis of the Cerebral cavernous malformations genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.