New NGS panel covers the analysis of 7 genes associated with pulmonary arterial hypertension. Testing information and list of genes are available on https://www.asperbio.com/asper-cardiogenetics/pulmonary-arterial-hypertension-ngs-panel/.
Pulmonary Arterial Hypertension NGS panel
Published 14/02/2017Pulmonary Arterial Hypertension
NGS panel
Genes (full coding region): |
ACVRL1, BMPR2, BMPR1B, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD4, SMAD9 |
Lab method: | NGS panel with CNV analysis |
TAT: | 6-9 weeks |
Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
Ordering information: | Go to online ordering or download sample submission form |
Deletion/duplication analysis
Genes: | ACVRL1, BMPR2, ENG |
Lab method: | MLPA |
TAT: | 4-6 weeks |
Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differential diagnosis
3. Testing at-risk family members
4. Genetic counseling
Pulmonary arterial hypertension (PAH) is a severe cardiopulmonary disorder caused by cellular proliferation and fibrosis of the small pulmonary arteries, which results in a progressive rise in pulmonary vascular resistance. Initial symptoms include dyspnea, fatigue, syncope, chest pain, palpitations and leg edema. The mean age at diagnosis is 36 years.
Although the pathogenesis of PAH begins in the pulmonary circulation, right heart failure is the major cause of morbidity and mortality.
PAH can be idiopathic (defined by absence of an underlying risk factor), heritable, induced by drugs or toxins, or associated with conditions such as connective tissue disease, congenital heart disease, portal hypertension, HIV infection, or schistosomiasis.
Hereditary PAH is inherited in an autosomal dominant manner. BMPR2 mutations remain the most common genetic cause of PAH, accounting for ~80% of hereditary PAH and ~20% idiopathic PAH. Pathogenic variants in other genes are less common (1%-3%).
References:
Austin ED et al 2002. Heritable Pulmonary Arterial Hypertension. GeneReviews®
Humbert M et al. Cellular and molecular pathobiology of pulmonary arterial hypertension. J. Am. Coll. Cardiol. 43, 13S–24S (2004).
Simonneau G et al. 2013. Updated clinical classification of pulmonary hypertension. J. Am. Coll. Cardiol. 62, D34–D41 (2013).
Tielemans B et al 2019. TGFβ and BMPRII signalling pathways in the pathogenesis of pulmonary arterial hypertension. Drug Discov Today. 2019 Mar; 24(3):703-716.
Tonelli A R et al.2013. Causes and circumstances of death in pulmonary arterial hypertension. Am. J. Respir. Crit. Care Med. 188, 365–369 (2013).