Options for testing for Sanfilippo Syndrome
Page reviewed by: Dr. Cara O’Neill, FAAP
Page last updated: August 5, 2025
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Early testing for Sanfilippo syndrome is crucial. Delays in diagnosis could impact access to clinical trials and/or services to support a child with Sanfilippo syndrome.
The American Academy of Pediatrics (AAP) updated its guidance in 2025 to recommend exome/genome sequence genetic testing as a first-tier test for children with global developmental delay and intellectual disability because of its superior diagnostic ability and high cost-effectiveness if pursued earlier in the diagnostic process. Fifty percent of the time, these children have an underlying genetic disorder.
Children with global developmental delay and intellectual disability are often first evaluated in the general pediatric setting. It is vital for general pediatricians to have this latest guidance from the AAP on the medical and genetic evaluation of these children to enable timely diagnosis.
Testing information for your child’s physician
Comprehensive information suited to sharing with your child’s physician is available. You can print out or send this handout to them as you discuss your concerns.
You may also want to share this guidance from the American Academy of Pediatrics that recommends exome/genome sequence genetic testing as a first-tier test for children with global developmental delay and intellectual disability.
If you or your physician have questions about symptoms of Sanfilippo Syndrome and testing options, contact us at Contact@CureSanfilippoFoundation.org.
Initial Testing Options for Sanfilippo Syndrome
Typically urine or genetic testing are done as initial screening tests.
Urine MPS Screening Test
Traditionally, the initial test used to screen for Sanfilippo syndrome is the Urine MPS Screening (glycosaminoglycans) Analysis, which detects if an abnormal amount of heparan sulfate is present in a child’s urine. (Of important note: This test is not part of a typical urinalysis used for determining infection.) Your physician may order a Urine MPS Screening Analysis if there are concerns about Sanfilippo syndrome.
This test requires that a urine specimen be collected at home or at the medical office. It does not have to be a sterile collection. A first-of-the-morning urine sample is ideal, but not required. If the minimum of 3 mLs of urine is not collected at one time, you may combine more than one urine sample from the same day. If collected at home, the sample should be labeled, refrigerated, and taken directly to the physician or laboratory as directed.
While urine testing is still an important part of the diagnostic process, false negatives can occur. New screening methods are becoming more common as first-line tests (see below for details).
Genetic Testing
Genes for Sanfilippo may be tested by sampling blood, a cheek swab, or a saliva collection.
There are many companies and labs that offer different levels of genetic testing (i.e. a single gene of interest, a panel of genes related to common symptoms or diseases, whole exome or whole genome sequencing). The choice of which level of testing will depend on your child’s individual medical history, other testing that may have been done already, and insurance requirements. Your doctor or a genetic counselor can help with this decision and ordering the appropriate test.
No-cost genetic testing:
Invitae
Genetic testing and counseling for lysosomal storage diseases is available through Invitae’s Detect Lysosomal Storage Diseases (LSDs) Program. It is available at no charge for patients in the U.S. and Canada who are suspected of having an LSD based on clinical features, suspicion of a specific lysosomal storage disease, family history related to LSDs, or lab results suggestive of LSDs. It is available outside of the U.S. and Canada, but may include a cost. Learn more about the program.
Results take an average of 10 to 21 days after Invitae receives the specimen. The preferred specimen is 3mL of whole blood.
Flyer to take to your doctor. Download informational flier to share with your doctor.
Genetic Counseling
If you are encountering long wait times for your child to see a geneticist or access genetic testing, you may consider a complimentary genetic counseling consultation through GeneDx and Genome Medical. Typically, these virtual consultation appointments are available in a timely manner.
Follow-Up Testing to Confirm Sanfilippo
Enzyme Activity Test
If suspicion remains after negative urine testing or inconclusive genetic testing, or if results of the above are positive, the diagnosis should be confirmed with a blood enzyme test.
A blood enzyme test is considered the most-reliable diagnostic tool in testing for Sanfilippo Syndrome because it detects whether or not one of the enzymes in the cellular pathway that breaks down heparan sulfate is missing (the functional cause of Sanfilippo Syndrome), providing a definitive answer.
This test requires a blood draw.
Is Sanfilippo Syndrome included in newborn screening?
Currently, Sanfilippo Syndrome is not included on any state’s routine newborn screening public health program.
Carrier Testing
Finding out if family members carry Sanfilippo mutation
Finding out if you are a carrier for Sanfilippo syndrome can provide helpful information for understanding if you or other family members are at risk for having children with this disease.