Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing
| Test Information | |
|---|---|
| Test Name | Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing |
| Lab (Location) | The Hospital for Sick Children |
| Category | Hematology |
| Subcategory | Hereditary Hemorrhagic Telangiectasia (HHT) |
| Gene/Platform/Region List | SMAD4 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | Sequencing |
| Methodology Notes | Gene Sequencing (Sanger - Robot) |
| Diseases/Conditions | Hereditary Hemorrhagic Telangiectasia (HHT), Osler-Weber-Rendu Disease, Juvenile Polyposis Syndrome JP/HHT syndrome |