Mucopolysaccharidosis type 1

Test Information
Test Name Mucopolysaccharidosis type 1
Lab (Location) Newborn Screening Ontario
Category Metabolic
Subcategory 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 Diagnosis, Carrier / Cascade Testing
Test Methodology Sequencing
Diseases/Conditions Mucopolysaccharidosis type 1, Hurler Syndrome