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Primary Pulmonary Artery Hypertension (PPAH)

Definition

Pulmonary arterial hypertension (PAH) is a heterogeneous and rare disorder that can be classified into idiopathic and heritable forms, associated with an underlying condition such as connective tissue disease or congenital heart disease or related to specific drugs and toxins. In addition, pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) are even rarer forms of pulmonary hypertension that are grouped together with PAH under the current classification system. Genetic testing allows early identification of these patients, facilitating appropriate management.

Why to perform genetic testing in cases with PPAH?

  • To confirm the diagnosis
  • To provide specific treatment and prognosis
  • To detect family members at risk to develop the disease

Our PPAH genetic test panel

ACVRL1, AQP1, ATP13A3, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, TBX4, SMAD9, SOX17

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from the Inherited PPAH genetic test panel: The yield of the test is close to 75%

 

Recommended Literature

  • Pulmonary Arterial Hypertension. Dodson et al., Heart Fail Clin. 2018 Jul;14(3):255-269. doi: 10.1016/j.hfc.2018.02.003.
  • Exome Sequencing in Children With Pulmonary Arterial HypertensionDemonstrates Differences Compared With Adults. Zhu N, et al, Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887.
  • Genetics of Pulmonary Arterial Hypertension. Chew JD, et al., Semin Respir Crit Care Med. 2017 Oct;38(5):585-595. doi: 10.1055/s-0037-1606201.

 

Download here interesting open access manuscripts on genetics of PPAH