Angelman Syndrome
| Test Information | |
|---|---|
| Test Name | Angelman Syndrome |
| Lab (Location) | The Hospital for Sick Children |
| Category | Neurodevelopmental |
| Subcategory | Angelman Syndrome |
| Gene/Platform/Region List | SNRPN, UBE3A |
| Test type | Single Gene |
| Samples Accepted | Blood |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV |
| Methodology Notes | MLPA dosage and methylation analysis of 15q11.2q13 region (SNRPN, UBE3A) |
| Diseases/Conditions | Angelman Syndrome (AS) |