| 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: Rare diagnostic errors can occur due to primer or probe site mutations. 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x16 Amplification; 83904 x16 Sequencing; 83909 Capillary electrophoresis. Del/Dup: 83896 Nucleic acid probes; 83898 Amplification; 83914 Extension; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
BMPR2 (Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication)
, Heritable Pulmonary Arterial Hypertension (Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication)
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