Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG
| Test Information | |
|---|---|
| Test Name | Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG |
| Lab (Location) | The Hospital for Sick Children |
| Category | Hematology |
| Subcategory | Hereditary Hemorrhagic Telangiectasia (HHT) |
| Gene/Platform/Region List | ACVRL1, ENG |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, DNA (Not Accepted for MLPA) |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA |
| Diseases/Conditions | Hereditary Hemorrhagic Telangiectasia (HHT), Osler-Weber-Rendu Disease, Juvenile Polyposis Syndrome JP/HHT syndrome |
| Notes | DNA not accepted for MLPA |