Beckwith-Wiedemann Syndrome
| Test Information | |
|---|---|
| Test Name | Beckwith-Wiedemann Syndrome |
| Lab (Location) | The Hospital for Sick Children |
| Category | Skeletal/growth |
| Subcategory | Beckwith-Wiedemann Syndrome |
| Gene/Platform/Region List | CDKN1C, H19 (IC1), KCNQ1 (IC2), 11p15 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, DNA (Not Accepted for MLPA) |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV, Methylation |
| Methodology Notes | MLPA and STR of H19 (IC1) and KCNQ1 (IC2) region; UPD Analysis only 11p15; Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing |
| Diseases/Conditions | BWS, Wiedemann-Beckwith Syndrome, IMAGe Syndrome |
| Notes | DNA and CVS not accepted for MS-MLPA |