Angelman Syndrome
| Test Information | |
|---|---|
| Test Name | Angelman Syndrome |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Neurodevelopmental |
| Subcategory | Angelman/Prader Willi Syndrome |
| Gene/Platform/Region List | 15q11-13 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | CNV |
| Methodology Notes | methylation-specific MLPA assay |
| Diseases/Conditions | Angelman Syndrome (AS) |