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Test details

Test · Diagnostics

MPS VII

Free home sample collection, physician reviewed3 - 5 DaysReports inBloodSample

MPS VII (Sly syndrome) is caused by a deficiency of the enzyme beta-glucuronidase. The phenotype varies significantly from mild to severe presentations and may include macrocephaly, short stature, dysostosis multiplex, hepatomegaly, coarse facies, and impairment of cognitive function. Likewise, the age of onset is variable ranging from prenatal to adulthood.MPS VII is extremely rare, affecting approximately 1 in 1,500,000 individuals. Treatment options include hematopoietic stem cell transplantation and enzyme replacement therapy.

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