Cerebral cavernous malformations are collections of abnormally thin and dilated blood vessels in the brain. These abnormal vessels are prone to rupture.
Genetics of Cerebral Cavernous Malformations
At least 3 genes are majorly implicated in familial cases of Cerebral cavernous malformations, and include KRIT1(CCM1), CCM2 and PDCD10(CCM3). Mutations in these genes account for a large majority of over 80% of all familial cases. The disease is inherited in an autosomal dominant pattern
How to join the Clinical NetworkIf you are a clinician who would like to join the clinical network, please drop a mail to Dr. Vinod Scaria (email@example.com) or Dr. Sunil Manjila (firstname.lastname@example.org), co-ordinators of the network.
How to Request Genetic testing for Cerebral Cavernous Malformations ?
Ordering a test is simple. You could register and key in your details to refer a patient/family for genomic analysis online. Once you have referred the patient/family, we would shortly get back to you with a sample code and detailed instructions on collecting and posting out the samples.
What Samples are required ?
We would require approx 5ml of blood in vacutainers (EDTA/ACD). In some cases, saliva/body fluids/tissues may also be considered, but please confirm before sending the samples.
Documentation required for referring
1) Genomic test request
Please fill up the form with the clinical summary
Pack the documents with the box you would be sending across
2) Consent forms (one each for each patient)
The consent forms for genomic analysis needs to be signed individually by each member (or parent/guardian in case the person is a minor). Each consent needs to be counter-signed by the investigator.
Since you would be posting out blood samples, you would require to attach a declaration which should be signed/stamped and given to the courier/postage department for processing your courier.