Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication
Preferred test to confirm diagnosis of pulmonary arterial hypertension (PAH), especially in those with a family history of PAH.
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Submit the Patient History Form for Pulmonary Arterial Hypertension with the Electronic Packing List.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Laboratory Developed Test (LDT)
Genes tested: ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, KCNA5**, KCNK3, SMAD9
** Deletion/duplication detection is not available for this gene.
81405; 81406; 81479
|Component Test Code*||Component Chart Name||LOINC|
|2009346||PAH Pan. Seq/DelDup, Specimen||31208-2|
|2009349||PAH Pan. Seq/DelDup, Interp||49014-4|
- Pulmonary Arterial Hypertension