Pulmonary Arterial Hypertension (BMPR2) Sequencing
Ordering Recommendation

Alternate test for individuals with clinical symptoms of pulmonary arterial hypertension (PAH). Large deletions and duplications will not be detected.

Polymerase Chain Reaction/Sequencing
14-21 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for: Pulmonary Arterial Hypertension (BMPR2) Sequencing:
Characteristics: Primary pulmonary arterial hypertension (PAH) is caused by widespread occlusion/destruction of the smallest pulmonary arteries that increases resistance to blood flow.
Incidence: 1 to 2 new cases per million individuals per year.
Inheritance: Autosomal dominant.
Penetrance: Approximately 20 percent.
Cause: Pathogenic BMPR2 mutations.
Clinical Sensitivity: Approximately 37 percent for familial PAH and 15 percent for idiopathic PAH.
Methodology: Bidirectional sequencing of the entire BMPR2 coding region and intron-exon boundaries.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region and deep intronic mutations and large deletion/duplications will not be detected. Mutations in genes, other than BMPR2, are not evaluated.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
Component Test Code*Component Chart NameLOINC
2003411BMPR2 FGS Specimen31208-2
2003412PAH (BMPR2) Sequencing Interpretation35474-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • BMPR2
  • BMPR2 sequencing assay
  • Heritable Pulmonary Arterial Hypertension