Genetic Test Details
Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG
Test Information
- Titre
- Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG
- Catégorie
- Hematology
- Sub Category
- Hereditary Hemorrhagic Telangiectasia (HHT)
- Gene/Platform/Region List
- ACVRL1, ENG
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood , DNA (Not Accepted for MLPA)
- Indications
- Diagnosis , Prenatal
- Test Methodology
- Sequencing , CNV
- Methodology Notes
- Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA
- Disease/Condition
- Hereditary Hemorrhagic Telangiectasia (HHT), Osler-Weber-Rendu Disease, Juvenile Polyposis Syndrome JP/HHT syndrome
Dernière Mise à Jour: 18 juin 2025