Pulmonary Arterial Hypertension (BMPR2) Deletion/Duplication
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Within 14 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) Deletion/Duplication:
Characteristics: Primary pulmonary arterial hypertension (PAH) is caused by wide spread 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: 34 percent for familial PAH; unknown for idiopathic PAH.
Methodology: Multiplex ligation-dependent probe amplification (MLPA) to detect large BMPR2 coding region deletions and duplications.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Base pair substitutions, regulatory region mutations, and deep intronic mutations will not be detected. Breakpoints of deletions/duplications will not be determined. Mutations in genes, other than BMPR2, are not evaluated.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

CPT Code(s)
Component Test Code*Component Chart NameLOINC
2003402BMPR2 DD Specimen
2003403PAH (BMPR2) Del/Dup 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 deletion/duplication assay
  • Heritable Pulmonary Arterial Hypertension