Prader Willi syndrome
| Test Information | |
|---|---|
| Test Name | Prader Willi syndrome |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Neurodevelopmental |
| Subcategory | Prader Willi syndrome |
| Gene/Platform/Region List | 15q11-q13 |
| 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 | Prader Willi syndrome (PWS), HHHO (hypogonadism, hypotonia, hypomentia, obesity), Prader-Labhart-Willi syndrome |