Acceptable test for individuals with clinical symptoms of pulmonary arterial hypertension (PAH).
- 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
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.
|Component Test Code*||Component Chart Name||LOINC|
|2003406||BMPR2 FGA Specimen|
|2003407||PAH (BMPR2) Interpretation|
- BMPR2 sequencing and deletion/duplication assay
- Heritable Pulmonary Arterial Hypertension