Mucolipidosis (Type IV)

Test Information

Title
Mucolipidosis (Type IV)
Category
Metabolic
Test Name (CMS Title)
Mucolipidosis
Gene/Platform/Region List
MCOLN1
Test type
Targeted Variant
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Targeted Sanger Sequencing

Last Updated: November 14, 2025