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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
Blood, DNA
Indications
Diagnostics, Prenatal
Test Methodology
CNV, Sequencing
Methodology Notes

Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA

Disease/Condition

Hereditary Hemorrhagic Telangiectasia (HHT), Osler-Weber-Rendu Disease

Dernière Mise à Jour: 04 juin 2026