Pulmonary Arterial Hypertension (PAH)

Pulmonary Arterial Hypertension (PAH) is a progressively developing vascular disease characterized by increased pulmonary vascular resistance, right ventricular overload, and heart failure.

Genetic testing is critically important for diagnosis, prognosis, and personalized management of the condition, especially in idiopathic or familial cases.

The GENOSOPHY® PAH Genetic Panel includes 23 genes associated with the development of PAH and related vascular diseases.

Which Conditions Are Covered by GENOSOPHY®’s PAH Genetic Testing?

• Familial and Idiopathic Pulmonary Arterial Hypertension
• Pulmonary Veno-Occlusive Disease (PVOD)
• Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia – HHT)
• Eisenmenger Syndrome

Clinical Benefits

Diagnosis

• Identification of genetic causes of PAH, especially in familial cases
• Enhanced differential diagnosis, avoiding unnecessary invasive procedures

Prognosis

• Assessment of disease progression potential and impact
• Determination of genetic risk for the patient’s relatives

Management

• Guidance on therapeutic approach, including personalized selection of drug treatment
• Family screening and preventive medical follow-up

Testing Procedure

The process is simple and includes:

1. Collection of a blood or saliva sample
2. Analysis of 23 genes associated with PAH
3. Results delivered within 5–6 weeks

Genetic counseling and result interpretation by professors from the Medical School of the National and Kapodistrian University of Athens (NKUA) is available as a separate service.

Genes Included in the Genetic Panel

ABCC8, ACVRL1, AQP1, ATP13A3, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, KLF2, NFU1, NOTCH3, RASA1, SARS2, SMAD4, SMAD9, SOX17, STRA6, TBX4

Note: In addition to full exon sequencing of the above genes, GENOSOPHY®’s test analyzes dozens of variants in non-coding regions such as promoters and introns. Detection sensitivity for single nucleotide variants (SNVs), insertions/deletions (indels), and copy number variants (CNVs) is >99%. Sensitivity may be slightly reduced in certain genes.