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Mucopolysaccharidosis type 1

Test Information

Title
Mucopolysaccharidosis type 1
Category
Metabolic
Test Name (CMS Title)
Mucopolysaccharidosis type 1
Gene/Platform/Region List
IDUA
Test type
Single Gene
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Mucopolysaccharidosis type 1, Hurler Syndrome

Last Updated: December 09, 2025