Alliance to Cure Cavernous Malformation offers free genetic testing to qualified American and Canadian members who are unable to obtain 3rd party coverage and who meet certain criteria.
***Please note that as of 7/1/2022, we are no longer able to offer testing to residents of the state of New York.***
To qualify for testing:
- You must have multiple cavernous malformations that cannot be explained by a developmental venous anomaly (venous angioma) or a history of brain radiation for cancer, or you must have a first-degree relative who has received genetic testing and been found to have a CCM mutation.
- You must have a doctor who is willing to receive the results of the genetic testing to share them with you. Alliance to Cure Cavernous Malformation is not allowed to share the results directly. Your doctor will need to sign a form prior to your receiving the test kit.
- Children may be tested with the permission of their parents. If a child is found to have a genetic mutation, we ask that biological parents be tested as well (exceptions can be made for biological parents who are not accessible).
- Only one diagnosed member of an extended family will receive testing through this program. If you have been diagnosed through MRI and another family member already has a test result either through Alliance to Cure Cavernous Malformation or another provider, you should not apply. This is an illness in which every member of a family will have the same mutation.
- If you are interested in obtaining testing for the CCM1 Common Hispanic Mutation, please see our page regarding testing through AncestryDNA.
To express your interest, please register in our Cavernous Malformation Registry or update your existing registration and respond to the question asking about your interest in genetic testing. When you have indicated your interest, we will contact you with the enrollment package via email. If you do not hear from us within 4 weeks of registering, please check the spam folder of your email for an email with our enrollment packet. If it is not there, please email clee@alliancetocure.org.
Essentially, enrollment involves:
- asking your doctor to complete a form,
- completing an agreement form and a release of information,
- obtaining an MRI report or MRI CD (we will return the CD to you if needed),
- mailing, faxing, or emailing the items above to us, and
- answering any additional questions via email.
After your enrollment is approved, you will submit a saliva sample to our lab using a collection kit sent to you. Your results will go to your doctor who will share them with you. We will let you know when the results are with your doctor. Typically, it takes 3-4 weeks from the time you mail your sample to the lab.
We encourage anyone who is able to make a donation to do so to support the program going forward.
We are very excited to be moving one step closer toward a cure. We hope you’ll consider taking advantage of this opportunity.
Updated 6.28.22
