Invitae Pulmonary Arterial Hypertension Panel


Test description

This test is for individuals with a clinical diagnosis of pulmonary arterial hypertension (PAH). The primary Invitae Pulmonary Arterial Hypertension Panel includes 4 genes that are definitively associated with PAH.

Individuals with clinical symptoms of PAH may benefit from diagnostic genetic testing to establish or confirm diagnosis, clarify risks, or inform medical management. Asymptomatic members of a family with a known PAH pathogenic variant may also benefit by avoiding specific medications (e.g., anticoagulation and anti-inflammatory agents) that can trigger symptoms.

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Primary panel (4 genes)


Add-on preliminary-evidence genes (5 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.


  • pulmonary arterial hypertension (PAH)

Pulmonary arterial hypertension (PAH) is characterized by high blood pressure (hypertension) in the pulmonary artery due to the narrowing of the arteries in the lungs. This results in increased pressure on the pulmonary artery and the right ventricle of the heart. The persistent pressure on the right ventricle can lead to progressive heart failure. Common symptoms associated with PAH include dyspnea, fatigue, syncope, chest pain, palpitations, and leg edema. The heritable forms of PAH are accounted for by familial PAH and simplex PAH (i.e., a single occurrence in a family).

This test covers the most common genetic causes of PAH. Pathogenic variants in BMPR2 account for up to 75% of familial PAH cases and 25% of simplex PAH cases (i.e., a single occurrence of PAH in a family). The remaining genes on this test panel account for a rare or unknown proportion of PAH. Adding preliminary evidence genes will not increase the clinical sensitivity of the test at this time.

PAH is an autosomal dominant condition.

PAH exhibits reduced penetrance, meaning that not everyone who inherits a predisposition to develop it will go on to manifest symptoms. PAH has variable age of onset and can present from childhood to adulthood.

While its exact prevalence is unknown, PAH is rare.

This test may be considered for individuals with:

  • an absence of another causative disorder for pulmonary hypertension
  • right ventricular heave or cardiac murmur, such as tricuspid regurgitation, resulting from right ventricular dilatation
  • signs of right ventricular failure

For links to published management guidelines, please refer to our Management guidelines page.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACVRL1 NM_000020.2
BMPR1B NM_001203.2
BMPR2 NM_001204.6
CAV1 NM_001753.4
ENG NM_000118.3
GDF2 NM_016204.2
KCNA5 NM_002234.3
KCNK3 NM_002246.2
SMAD9 NM_001127217.2