text: Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides 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 one of the mucopolysaccharidoses. Prenatal diagnosis using amniocentesis and chorionic villus sampling 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 the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.
option_0: Hurler syndrome laboratory findings
option_1: Cowden syndrome laboratory findings
option_2: Noonan syndrome laboratory findings
option_3: Hunter syndrome laboratory findings
option_4: Pott's disease laboratory findings
option_5: Leopard syndrome laboratory findings
option_6: Fanconi syndrome laboratory findings
option_7: Cretinism laboratory findings