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
New York DOH Approval Status
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.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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