22q11.2 Deletion Syndrome
| Test Information | |
|---|---|
| Test Name | 22q11.2 Deletion Syndrome |
| Lab (Location) | The Hospital for Sick Children |
| Category | Neurodevelopmental |
| Subcategory | 22q11.21 Deletion Syndrome |
| Gene/Platform/Region List | 22q11.2 |
| Test type | Gene Panel |
| Samples Accepted | Blood |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV |
| Methodology Notes | MLPA 29 Genes within the 22q11-13 region |
| Diseases/Conditions | DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome |