If you need genetic testing specifically for the Common Hispanic Mutation and are unable to secure it through your doctor, an alternative is available through Ancestry DNA. While Ancestry DNA will not directly tell you whether you have the Common Hispanic genetic mutation, their most recent tests provide raw data that includes the relevant portion of the CCM1 gene. This data can be used at a different website, Promethease, to determine your mutation status.
Alliance to Cure Cavernous Malformation receives no compensation from Ancestry, Ancestry DNA, Ancestry Health, or Promethease. We are providing this information entirely as a resource. We claim no responsibility for the quality or outcome of Ancestry DNA testing, their use of your DNA data, or Promethease’s analysis and use of your data.
Before using Ancestry DNA to determine your or your child’s genetic mutation status, please read through the Why Get Testing? There are both benefits and risks in finding out your mutation status. It’s important to understand these and to have a plan should your result be positive for the mutation.
If you are ready to order the Ancestry DNA test and follow through with testing and data analysis, please follow these instructions.
Ordering the test
If you decide to move forward, you can order a DNA kit through the Ancestry.com website. Ancestry frequently runs sales of up to 40% off around holidays. Ancestry DNA will send you a saliva collection kit in the mail. Follow their instructions and return the kit to them. You will be notified by email when Ancestry.com has your results ready for you.
Downloading your data
Once your results are in, log in to Ancestry.com, and select the DNA menu. You can see a great deal of information from within Ancestry, but to find out whether you have the Common Hispanic Mutation, you will need to download your DNA data from Ancestry and use it at a different website, called Promethease. This is where it might be helpful to have someone with a bit of computer savvy helping you.
- To download your data, click on Settings in the upper right of the screen.
- Scroll to the bottom and click on Download in the Action section next to Download Raw DNA. You will be prompted to re-enter your Ancestry DNA password.
- Ancestry will send you an email with further instructions for downloading your data. Please follow their instructions and save the file to your computer.
Uploading to Promethease
Once you have your data, you can use Promethease to determine whether you have the CCM1 Common Hispanic mutation. Promethease is a service that compares your raw DNA data to a database of scientific findings.
- Go to Promethease and follow their instructions to create an account. This includes giving informed consent and paying $12 for DNA analysis.
- Upload your raw DNA file to Promethease. They will contact you via email to let you know when your results are ready. It is usually the same day.
If you have trouble using Promethease but have your raw DNA data, please contact Connie Lee at email@example.com who may be able to assist you.
When you return to Promethease, you will see your filename, and to the left will be 3 dots in a column labeled Action. Hover over the dots with your cursor and click on View Report.
You’ll arrive at a screen of results, but first Promethease will walk you through a tutorial on using their service. After the tutorial, you’ll be able to see every result in your raw DNA, as sampled by Ancestry, that connects to a scientific finding. Those results that are associated with a health condition are in a red-bordered box. If you have the Common Hispanic Mutation, one result, probably the first, will be labeled rs267607203(C;T). The important parts are the two letters – C;T. If one of these is T, that indicates the presence of the Common Hispanic Mutation.
If your raw DNA indicates the presence of the Common Hispanic Mutation, there are several next steps:
- Contact your PCP who can refer you to a neurologist and a genetic counselor. 50% of people with the Common Hispanic Mutation will never have a symptom, but it’s good to establish a relationship with a neurologist just in case. A neurologist may want to order a baseline MRI so that your current condition can be documented should there be a future change. Alliance to Cure Cavernous Malformation has multiple Centers of Excellence around the US where experts can be found.
- A genetic counselor can help you share this information with your immediate family, who may choose to get tested as well.
- Contact Joyce Gonzales at firstname.lastname@example.org to share your genealogy. We are creating a huge tree of all known affected families so that we can identify geographic hot spots and counsel those who may be at risk. We have already learned a great deal from the over 20,000 people, living and historic, in our tree.