If a person has a family history of Sanfilippo syndrome, genetic testing may be performed to determine whether mutations are present that affect any of the four genes responsible for heparan sulfate degradation. Although carriers do not have the disease, they can pass a copy of the mutated gene to their children.
Prenatal DNA testing may be performed if there is a family history of Sanfilippo syndrome. Diagnosis during pregnancy is possible using chorionic villus sampling (CVS) at about 11 weeks or amniocentesis at around 14 weeks. However, there are health risks associated with prenatal genetic testing, including miscarriage.
Before and after genetic testing, individuals should meet with a genetic counselor, who can help them understand the risks of having a child with Sanfilippo syndrome. A genetic counselor can also explain the different types of genetic tests, including their potential risks and benefits. These counselors can help patients understand and interpret the test results.
Patients diagnosed with Sanfilippo syndrome should undergo regular checkups with their doctors in order to reduce the risk of developing complications.
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