Mucopolysaccharidosis Type VI

Diagnosis and Testing

How do I get tested for Mucopolysaccharidosis Type VI?

To get tested for Mucopolysaccharidosis Type VI (MPS VI), visit a doctor or a genetic counselor near you. Tell your doctor or genetic counselor that you are concerned about a genetic condition like MPS VI. They can help decide if testing for MPS VI is right for you. The first step in testing is usually a urine test to look for certain substances called glycosaminoglycans (GAGs) and to see if a substance called dermatan sulfate is high. At the same time, they may test your blood to check the level of arylsulfatase B enzyme (the enzyme that isn't working properly in MPS VI). These two tests together can figure out if a person has MPS VI. Another way to test for MPS VI is by doing a genetic test that looks for changes in the ARSB gene, which gives the instructions to make arylsulfatase B.

To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website (www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: www.nsgc.org.

http://www.maroteaux-lamy.com/en-us/pages/patient/TreatmentTesting.aspx

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