Sanfilippo syndrome, a progressive disorder that affects the brain and spinal cord and whose symptoms start in early childhood, is characterized by progressive intellectual disability and the loss of previously acquired skills.
If physicians suspect a patient has Sanfilippo syndrome, they may recommend a genetic test to confirm the diagnosis.
How to prepare for a genetic test?
Little preparation is required for a genetic test, but make sure the person is well-hydrated as a blood sample will be taken. Even though not much blood is needed, it is also a good idea to make sure to eat about an hour before the sample is taken.
What happens during the test?
For a genetic test, a small blood sample is taken at a hospital or clinic. Giving a blood sample is usually quick; there may be a minor discomfort at the injection site for a short time after the sample is taken.
If you have unusual swelling or extreme discomfort at the site afterward, contact your doctor immediately.
The blood sample will be sent to a laboratory for genetic testing. It can take four to six weeks for the results to be returned.
What happens after the test?
The doctor will receive the test results, and arrange to meet with the patient and his/her parents or caregivers to discuss them. If the results show mutations in genes responsible for Sanfilippo syndrome, the doctor will discuss treatment options.
It may also be worthwhile for patients to meet with a genetic counselor, as other family members may also need to be tested for the presence of disease-causing mutations. The genetic counselor will be able to provide information to these family members about the potential risk of their children also having Sanfilippo.
Last updated: Nov. 5, 2019
Sanfilippo Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.