| 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
|
