List of diseases covered by
Hereditary Hemorrhagic Telangiectasia NGS panel
Gene | Condition |
ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2 |
ENG | Telangiectasia, hereditary hemorrhagic, type 1 |
GDF2 | Telangiectasia, hereditary hemorrhagic, type 5 |
RASA1 | Capillary malformation-arteriovenous malformation 1 |
SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Myhre syndrome; Polyposis, juvenile intestinal |