PULMONARY SURFACTANT DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Pulmonary Surfactant Deficiency Panel is designed for the genetic diagnosis of inherited disorders affecting the synthesis, processing, and function of pulmonary surfactant, an essential component for maintaining alveolar surface tension and respiratory stability. These disorders typically present in the neonatal or infant period with severe respiratory distress, refractory hypoxemia, and progressive respiratory failure, although some forms may manifest in adulthood. The panel includes genes involved in surfactant biosynthesis and transport (ABCA3, SFTPB, SFTPC), alveolar signaling and homeostasis (CSF2RA, CSF2RB, NKX2-1), and pulmonary and vascular development (FOXF1). Identifying pathogenic variants allows for confirmation of the genetic etiology, guides treatment and prognosis, and provides genetic counseling for families. Key genes analyzed: ABCA3, SFTPB, SFTPC, NKX2-1, FOXF1, CSF2RA, and CSF2RB. You can consult the complete list of genes analyzed by contacting Genotica.
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