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Test Code LAB9080 Pulmonary Hypertension Panel

Aliases

Germline testing

Performing Section

PRECISION DIAGNOSTICS

Specimen Type

Whole Blood/Purple Top Tube (K2 EDTA) or Buccal Swab.  

Specimen Volume

  • Optimal Volume: 4.0 ml
  • Minimum Volume: 0.5 ml

TAT

4 weeks

CPT

Proband Only – 81479
Duo Analysis – 81479
Trio Analysis – 81479

Special Collection Notes

Collect specimen according to standard operating procedure

Additional Notes

The Precision Diagnostics Laboratory’s Pulmonary Arterial Hypertension (PAH) Panel analyzes 32 genes implicated in idiopathic and hereditable forms of PAH. These genes participate in various signaling pathways essential for pulmonary vascular remodeling, endothelial homeostasis, and smooth muscle cell proliferation, thereby playing a pivotal role in the pathogenesis of diverse vascular and pulmonary conditions. Genetic testing allows for risk assessment among family members, as identified mutations may suggest a hereditary pattern, enabling earlier diagnosis and intervention. The clinical implications of genetic diagnoses are profound, as they can inform not only patient management strategies but also provide guidance for screening relatives at risk of developing PAH.

Method

Next Generation Sequencing

Purpose/Principle

The CHO Pulmonary Arterial Hypertension (PAH) Panel utilizes next-generation sequencing technology to detect genetic variants in a selection of genes associated with pulmonary arterial hypertension. The primary focus of this panel is to elucidate both heritable and idiopathic forms of PAH, which is characterized by increased pulmonary vascular resistance and right ventricular dysfunction. The assay interrogates the coding regions and flanking intronic bases of the cited genes, with the capacity to detect single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variants (CNVs). Uniform genomic coverage is achieved through standardized specimen processing and short-read sequencing. Sequencing data are monitored by quality control metrics to ensure high confidence in the accuracy and specificity of the variant calls. The CNV resolution threshold is approximately 1 Mb, although smaller events may be detected depending on regional complexity and data quality. Detection capabilities emphasize the identification of pathogenic variants, which is crucial for understanding the underlying genetic mechanisms of PAH and guiding personalized therapeutic strategies.

 

ABCA3, ABCC8, ACVRL1, AQP1, ATP13A3, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FARSB, FBN1, FLNA, FOXF1, GDF2, GGCX, KCNA5, KCNK3, KDR, KLF2, NF1, NFU1, NOTCH3, RASA1, SARS2, SMAD1, SMAD4, SMAD9, SOX17, STRA6, TBX4, TET2