Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication
Also known as: PAH PANEL
Use
Pulmonary arterial hypertension (PAH) is caused by widespread occlusion or destruction of the smallest pulmonary arteries, leading to increased blood flow resistance, right ventricular hypertrophy, and heart failure. This test is preferred to confirm diagnosis of PAH, especially in those with a family history. It helps in identifying heritable forms by detecting pathogenic variants in several genes associated with PAH.
Special Instructions
Not provided.
Limitations
This test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. Regulatory region variants, deep intronic variants, and certain deletions/duplications might not be detected. Diagnostic errors can occur due to rare sequence variations. This test is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA (mtDNA) variants, or repeat expansions.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 31208-2 - Specimen source
- 49014-4 - PAH gene Mut Anl Bld/T
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant