#ExistInterpData>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: Rare diagnostic errors can occur due to primer site mutations. Regulatory region and deep intronic mutations and large deletion/duplications will not be detected. Mutations in genes, other than BMPR2, are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
||BMPR2 (Pulmonary Arterial Hypertension (BMPR2) Sequencing)
, Heritable Pulmonary Arterial Hypertension (Pulmonary Arterial Hypertension (BMPR2) Sequencing)