How to find out if you or someone else are a carrier of Sanfilippo Syndrome
Page reviewed by: Dr. Cara O’Neill, FAAP
Page last updated: February 1, 2023
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If you or your physician have questions, contact us at Contact@CureSanfilippoFoundation.org.
Invitae Comprehensive Carrier Screen
Invitae is one of many companies that offer pre-conception carrier screening panels. It checks your DNA for more than 550 genetic conditions including Sanfilippo Syndrome (Types A, B, C, and D), cystic fibrosis, Tay-Sachs disease, fragile X syndrome, and spinal muscular atrophy.
The test is mailed to your home. You provide a saliva sample and ship it back to the lab for analysis. You will receive your results, which you can share with your doctor. Additionally, a genetic counselor is available for you to speak with at no extra cost.
We recommend sending your Sanfilippo-affected family member’s genetic mutations along with your request for the test, so the screening company can pay special attention.