Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication
Ordering Recommendation

Acceptable test for individuals with clinical symptoms of pulmonary arterial hypertension (PAH).

Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
28-35 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: 2 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 and Deletion/Duplication:
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 70 percent for familial PAH and 15 percent for idiopathic PAH.
Methodology: Bidirectional sequencing of the entire BMPR2 coding region and intron-exon boundaries and multiplex ligation-dependent probe amplification (MLPA) to detect large BMPR2 coding region deletions and duplications.
Analytical Sensitivity & Specificity for Sequencing: 99 percent.
Analytical Sensitivity & Specificity for MLPA: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. Breakpoints of large deletions/duplications will not be determined. 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
2003406BMPR2 FGA Specimen
2003407PAH (BMPR2) Interpretation
* 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 and deletion/duplication assay
  • Heritable Pulmonary Arterial Hypertension