Niemann-Pick Disease (Type A & B)
| Test Information | |
|---|---|
| Test Name | Niemann-Pick Disease (Type A & B) |
| Lab (Location) | The Hospital for Sick Children |
| Category | Metabolic |
| Subcategory | Niemann-Pick Disease |
| Gene/Platform/Region List | SMPD1 |
| Test type | Targeted Variant |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | Sequencing |
| Methodology Notes | Targeted Sanger Sequencing |