Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR33751Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2009345CPT Codes 81405, 81406, 81479

Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication

Also known as: PAH PANEL

Clinical Use

Order Test

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

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory. Counseling and informed consent are recommended for genetic testing. Consent forms are available online. The test includes genes such as ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, SMAD9, TBX4. Informed consent is required for patients from New York.

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.

Test Details