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