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Genetic Studies in Pulmonary Vein Stenosis

PVS Genetics

  • Condition(s): Other
  • Phase: N/A

What is the goal of the study?

1. Identify PIK3CA and other gene mutations in tissues and blood/plasma samples from patients with pulmonary vein stenosis (PVS), using highly sensitive sequencing methods (next-generation sequencing and digital droplet PCR) 2. Sequence a broad panel of growth-promoting genes in the PI3K-MAPK pathway using tissues and blood/plasma samples from patients with PVS 3. Determine the ideal sample (tissue, central, or peripheral blood; genomic DNA, or cell-free DNA) for detecting PIK3CA or other mutations in patients with PVS and other related developmental cardiovascular lesions

Who can participate in the study?

Everyone

Study Team: