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How is mucopolysaccharidoses (MPS) diagnosed?

Diagnosis of mucopolysaccharidoses (MPS) often can be made through clinical examination and urine tests (excess MPS are excreted in the urine). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of the MPS subtypes. Prenatal diagnosis using amniocentesis and chorionic villus sampling (CVS) can verify if a fetus either carries a copy of the defective gene or is affected with the disorder. Genetic counseling can help parents who have a family history of MPS determine if they are carrying the mutated gene that causes the disorders.

This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

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