Diagnostics

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Pulmonary Arterial Hypertension Panel

The Pulmonary Arterial Hypertension Panel is a comprehensive next-generation (NGS) panel that can be used to confirm a clinical diagnosis of pulmonary arterial hypertension or identify at-risk individuals.

Pulmonary arterial hypertension is a condition characterized by high blood pressure in the pulmonary artery caused by a narrowing of blood vessels in the lungs. Increased pressure in the pulmonary artery can cause increased pressure in and damage to the right ventricle of the heart. Over time, pulmonary hypertension can cause dyspnea, syncope, chest pain, palpitations, and eventually, progressive heart failure.

Included Disorders

This panel includes genes associated with:

  • Pulmonary arterial hypertension

Prevalence

The prevalence of pulmonary arterial hypertension is unknown.

Inheritance and Penetrance

Pulmonary arterial hypertension is inherited in an autosomal dominant manner, and exhibits reduced penetrance. The penetrance of pathogenic variants in BMPR2 has been estimated as 14-42% (Larkin et al, 2012).

Clinical Sensitivity

Pathogenic variants can be identified in approximately 75% of pulmonary arterial hypertension cases (Austin et al, 2002). The Pulmonary Arterial Hypertension Panel includes all of the most common genes associated with this condition.

Methodology and Analytical Sensitivity

Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity and specificity of the assay is >99%.

Indications for Testing

  • Confirmation of a clinical diagnosis
  • Right ventricular failure or unexplained pulmonary hypertension
  • Risk assessment for asymptomatic family members of proband with molecular diagnosis

Included Genes (5)

ACVRL1 BMPR2 CAV1 ENG SMAD9

 

Additions to Comprehensive Panel

Emerging evidence genes can also be added onto the Pulmonary Arterial Hypertension Panel. These genes do not have a clear association with pulmonary arterial hypertension, but emerging evidence suggests that they may play a role in disease pathogenesis.

Emerging Evidence Genes (4)

BMPR1B GDF2 KCNA5 KCNK3

 

References

  1. Austin ED, Loyd JE, Phillips JA III. Heritable Pulmonary Arterial Hypertension. 2002 Jul 18 [Updated 2015 Jun 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  2. Larkin EK, Newman JH, Austin ED, et al. Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. Am J Respir Crit Care Med. 2012;186(9):892-6.