Ordering Recommendation

Preferred test to confirm diagnosis of pulmonary arterial hypertension (PAH), especially in those with a family history of PAH.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: ACVRL1, BMPR2, CAV1, EIF2AK4, ENG,* GDF2, KCNA5, KCNK3, SMAD9, TBX4
*
One or more exons are not covered by deletion/duplication analysis for the indicated gene; see Additional Technical Information.

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

Hotline History

N/A

CPT Codes

81405; 81406; 81479

Components

Component Test Code* Component Chart Name LOINC
2009346 PAH Pan. Seq/DelDup, Specimen 31208-2
2009349 PAH Pan. Seq/DelDup, Interp 49014-4
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • increased mean pulmonary artery pressure
  • PAH
  • pulmonary arterial hypertension
Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication