SCIENTIFIC BACKGROUND

ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNA5, KCNK3, SMAD4, SMAD9, TBX4

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Scientific Background

Pulmonary Hypertension (PH) is a disorder characterized by high blood pressure in the blood vessels leading from the heart to the lungs, which are called pulmonary arteries. PH can affect people of all ages. High blood pressure causes narrowing of the lung arteries, affecting the blood flow and resulting in less oxygen in the bloodstream. PH affects approximately 1% of the global population. It is classified based on the clinical condition associated with PH, such as Pulmonary Arterial Hypertension (PAH) and PH associated with left heart disease and lung disease.

 

Who is this test for?

In the 2022 guidelines by the European Society of Cardiology in collaboration with the European Respiratory Society, patients showing symptoms of PH should be made aware of the possibility of a genetic condition so that they and asymptomatic family members can proceed with genetic testing for early diagnosis and management. Genetic testing is also recommended for the diagnosis of PAH.

 

References

  • Humbert, M., Kovacs, G., Hoeper, M. M., Badagliacca, R., Berger, R. M., Brida, M., Carlsen, J., Coats, A. J., Escribano-Subias, P., Ferrari, P., Ferreira, D. S., Ghofrani, H. A., Giannakoulas, G., Kiely, D. G., Mayer, E., Meszaros, G., Nagavci, B., Olsson, K. M., Pepke-Zaba, J., Rosenkranz, S. (2022). 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. European Respiratory Journal, 61(1), 2200879. https://doi.org/10.1183/13993003.00879-2022

 

How many genes are tested in this panel?

11 genes

GENES

ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNA5, KCNK3, SMAD4, SMAD9, TBX4
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