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.
- 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
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.
|Component Test Code*||Component Chart Name||LOINC|
|2003402||BMPR2 DD Specimen|
|2003403||PAH (BMPR2) Del/Dup Interpretation|
- BMPR2 deletion/duplication assay
- Heritable Pulmonary Arterial Hypertension