Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis
| Test Information | |
|---|---|
| Test Name | Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis |
| Lab (Location) | The Hospital for Sick Children |
| Category | Skeletal/growth |
| Subcategory | Simpson-Golabi-Behmel Syndrome |
| Gene/Platform/Region List | GPC3, GPC4 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, DNA (Not Accepted for MLPA) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of GPC3 and GPC4 |
| Diseases/Conditions | Simpson-Golabi-Behmel Syndrome |
| Notes | DNA not accepted for MLPA |