Mucolipidosis (Type IV)
| Test Information | |
|---|---|
| Test Name | Mucolipidosis (Type IV) |
| Lab (Location) | The Hospital for Sick Children |
| Category | Metabolic |
| Subcategory | Mucolipidosis |
| Gene/Platform/Region List | MCOLN1 |
| Test type | Targeted Variant |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Methodology Notes | Targeted Sanger Sequencing |