List of diseases covered by
Pulmonary Arterial Hypertension NGS panel
| Gene | Condition |
| ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2 |
| BMPR2 | Pulmonary hypertension, familial primary, 1, with or without HHT; Pulmonary venoocclusive disease 1 |
| BMPR1B | Acromesomelic dysplasia, Demirhan type; Brachydactyly, type A1, D; Brachydactyly, type A2 |
| CAV1 | Pulmonary hypertension, primary, 3; Lipodystrophy, congenital generalized, type 3; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |
| EIF2AK4 | Pulmonary venoocclusive disease 2 |
| ENG | Telangiectasia, hereditary hemorrhagic, type 1 |
| FOXF1 | Alveolar capillary dysplasia with misalignment of pulmonary veins |
| GDF2 | Telangiectasia, hereditary hemorrhagic, type 5 |
| KCNA5 | Atrial fibrillation, familial, 7 |
| KCNK3 | Pulmonary hypertension, primary, 4 |
| SMAD4 | Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal |
| SMAD9 | Pulmonary hypertension, primary, 2 |