Carrier Testing for Sanfilippo Syndrome

Testing for Sanfilippo Syndrome header image - Haidyn Fowler

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 someone in your family history has or has had Sanfilippo Syndrome, it is good idea to be proactive in understanding your risks and carrier status for the disease. Carrier testing for Sanfilippo can now be done quite easily.

If you or your physician have questions, contact us at

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.