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  • Test code: 02351
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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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 5 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 (5 genes)
Add-on Preliminary-evidence Genes for Pulmonary Arterial Hypertension (4 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.

BMPR1B GDF2 KCNA5 KCNK3

  • pulmonary arterial hypertension (PAH)

Pulmonary arterial hypertension (PAH) is characterized by obstruction or narrowing of the arteries in the lungs. This results in high blood pressure in the pulmonary arteries (pulmonary arterial hypertension), 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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

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