How to find out if you or someone else is a carrier of Sanfilippo Syndrome
Page last updated: April 29, 2025
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What does it mean to be a ‘carrier’ for a genetic disease like Sanfilippo syndrome?
There are a number of ways that genetic variations can be passed on from parent to child Genetic variants associated with Sanfilippo syndrome are inherited in an autosomal recessive manner. This means that in order for a child to have a diagnosis of Sanfilippo syndrome, they have to inherit two copies of genetic variations (one from each carrier parent). Most of the time when children are diagnosed with Sanfilippo syndrome, parents are not aware that they silently carry a gene variation for Sanfilippo syndrome and often there is no history of Sanfilippo syndrome in the family.
Most people silently carry variants in their DNA linked to serious childhood diseases. Sanfilippo syndrome affects approximately 1 in every 70,000 children, suggesting that about 1 in 133 people carry a variant for some form of Sanfilippo.
How to find out if you are a carrier for Sanfilippo
Carrier Testing
Carrier testing is now widely available for Sanfilippo syndrome and other serious childhood diseases. We recommend discussing testing options with your doctor, your child’s doctor (if applicable), or a genetic counselor to learn what options for testing will best meet your needs and preferences. It’s crucial for individuals with family history to consider targeted testing for specific variants, enhancing the accuracy of results.
Targeted Testing
For those with a known family genetic variant related to Sanfilippo syndrome, targeted testing of that variant can provide more accurate results. This approach reduces the risk of false negatives associated with broader carrier screening. If you are considering more comprehensive testing, such as diagnostic testing, be aware that it may reveal all variants, not just known disease-causing ones.
If you or your physician have questions about further testing or Sanfilippo syndrome, please contact us at Contact@CureSanfilippoFoundation.org.
Available Carrier Screening Options
The following are current options for carrier screening as of when this page was updated. We will update this page periodically, but it is possible that a company may have made changes to their services in the interim.
If someone in your family has Sanfilippo syndrome or is known to be a carrier for the disease, 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 to those areas of the gene.
Natera
Natera’s “Horizon Genetic Carrier Screening” has multiple panel testing options. Screening for all four subtypes of Sanfilippo Syndrome are included in the following panels: Horizon 274; Horizon 421; Horizon 445-Custom; Horizon 569-Custom; and Horizon 574-Custom.
LabCorp
LabCorp, under its women’s health services, offers the “Inheritest® Carrier Screen.” Screening for all four subtypes of Sanfilippo syndrome are included in the following panels: 100 PLUS panel, 300 PLUS panel, or 500 PLUS panel.
GeneDx
GeneDx recently partnered with Genome Medical to provide an alternate pathway exome sequencing for genetic screening. By scheduled a free consultation with a genetic counselor through Genome Medical, you can get testing recommendations that are personalized for your family. This does not require a referral or order by your own physician.
JScreen
JScreen’s upfront self-pay and insurance pay options offer a quick pathway to carrier screen. Screening for Types A, B, and C is available on their Reproductive Carrier Screening. Important note: JScreen does not include testing for Type D in its panel.