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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 EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • 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 genes that are definitively associated with PAH.

Individuals with clinical symptoms of PAH may benefit from 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 (12 genes)

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

Add-on Preliminary-evidence Genes for Pulmonary Arterial Hypertension (2 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.

BMPR1B KCNA5

  • Pulmonary arterial hypertension (PAH)
  • Pulmonary veno-occlusive disease (PVOD)
  • Hereditary hemorrhagic telangiectasia (HHT)
  • Ischiocoxopodopatellar syndrome (ICPPS)

To view the complete clinical description of this panel, click here.

PAH is an autosomal dominant condition. EIF2AK4-related pulmonary veno-occlusive disease and pulmonary hypertension are autosomal recessive.

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

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
AQP1 NM_198098.3
ATP13A3 NM_024524.3
BMPR1B NM_001203.2
BMPR2 NM_001204.6
CAV1 NM_001753.4
EIF2AK4 NM_001013703.3
ENG* NM_000118.3
GDF2 NM_016204.2
KCNA5 NM_002234.3
KCNK3 NM_002246.2
SMAD9 NM_001127217.2
SOX17 NM_022454.3
TBX4 NM_018488.3

ENG: Sequencing analysis for exons 7 includes only cds +/- 10 bp.