Pulmonary Artery Hypertension (PAH) is defined as a mean pulmonary arterial pressure greater than 25mmHg at rest or greater than 30mmHg during exercise. It is a rare, progressive disorder typified by occlusion of the pulmonary arteries due to endothelial dysfunction and uncontrolled proliferation of smooth muscle of pulmonary artery and fibroblasts. It is characterized by a progressive and persistent increase in pulmonary vascular resistance that will ultimately exert a strain over the right heart causing right ventricular failure. It is a lethal pulmonary vascular disease if not treated appropriately. There are 5 classifications of PAH according to the World Health Organization based on the similarities in pathophysiology, clinical presentation and therapeutic options. The cohort of genes that has been identified to be related to PAH are germline mutations that are dominantly inherited with a reduced penetrance.
The Igenomix Pulmonary Artery Hypertension Precision Panel can be used as a diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.
The Igenomix Pulmonary Artery Hypertension Precision Panel is indicated in those cases where there is a clinical suspicion of PAH or presence of an underlying disease entity that may lead to PAH with or without the following manifestations:
- Shortness of breath with exertion
- Syncope with exertion
- Chest pain
- Right upper quadrant pain
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis and improve prognosis.
- Early initiation of treatment with a multidisciplinary team in the form supportive therapy, pharmacologic therapy with targeted endothelin receptor antagonists, phosphodiesterase-5 inhibitors or prostacyclin analogues, and/or surgical treatment including lung transplantation.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
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