Genetic Testing Program details
Overview
Genetic testing to identify the specific cause of the multiple cerebral cavernous malformations (CCMs) in your family can help you, your family, and your doctor better manage your condition, enable less expensive diagnosis for family members, and may open research participation opportunities and new treatment options.
To help increase access, the Alliance to Cure Cavernous Malformation offers genetic testing for individuals with multiple CCMs. Here is a brief overview of the steps of our genetic testing program:
*Saliva, buccal (cheek swab), and blood samples can be used for this genetic testing. We typically order a saliva collection kit, as it is generally easy for most individuals to collect. A buccal (cheek swab) kit can be ordered for children.
Eligibility
The Alliance to Cure genetic testing program is a limited resource, and to participate in the genetic testing program, you must have multiple CCMs that are suggestive of a genetic cause.
- People can have multiple CCMs caused by radiation therapy to treat brain cancer. In these cases, it is very unlikely that the person has familial CCM.
- People can also have multiple CCMs associated with a developmental venous anomaly (DVA; venous angioma). DVAs are not hereditary and make it unlikely that the person has familial CCM.
- For people who have only one CCM and no relatives with the condition, genetic testing usually does not show a genetic cause.
- We are not currently offering genetic testing for at-risk family members.
Please contact Katie Garbarini, MS, CGC (katie@alliancetocure.org) if you have any questions about our program eligibility criteria or genetic testing for you or family members.
Next Steps
To express your interest in the genetic testing program, please register in our Cavernous Malformation Registry or update your existing registration and respond to the question asking about your interest in genetic testing. Once you have indicated your interest, we will email you the enrollment package. 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 katie@alliancetocure.org.
After your enrollment is approved, you will submit a saliva or cheek swab sample to our lab using the collection kit we sent 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.
Cost
While there is no charge to participate in the genetic testing program, we ask that you consider making a tax-deductible donation to Alliance to Cure Cavernous Malformation to contribute toward the program:
- Our suggested donation amount is $200.
- Alliance to Cure Cavernous Malformation expects to spend an average of $600 per person on testing.
- This program’s funding comes entirely from individual donations.
- Donations can be made online or may be mailed.
Genetic Testing Resources
You can ask your local care team about genetic testing or request a meeting with a local or a telemedicine genetics service, whether you meet program requirements or not:
- Find a local genetics provider
- Telemedicine genetics options: InformedDNA; Genome Medical
Updated 1.30.26
