Surfactant Metabolism Dysfunction is a condition characterized by insufficient pulmonary surfactant needed for appropriate respiration. Pulmonary surfactant is responsible for maintaining surface tension at the liquid-air interphase in the alveoli, so a deficiency in this component results in easily collapsing alveoli immediately after expiration. Surfactant is composed of phospholipids and proteins and so a deficient metabolism can lead to an imbalance in the amount of these components resulting in a non-functioning surfactant. Genetic disorders of the surfactant homeostasis genes can lead to multiple lung diseases in neonates, children and adults, including neonatal respiratory distress syndrome, interstitial pneumonia, pulmonary alveolar proteinosis and pulmonary fibrosis.
The Igenomix Surfactant Metabolism Dysfunction Precision Panel can be used as a diagnostic and screening tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.
The Igenomix Surfactant Metabolism Dysfunction Precision Panel is indicated in those cases where there is a clinical suspicion of surfactant metabolism dysfunction with or without the following manifestations:
- Abnormally rapid breathing (tachypnea)
- Low concentration of oxygen in blood (hypoxemia)
- Failure to thrive
- Premature birth
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis and improve prognosis.
- Early initiation of treatment with a multidisciplinary team to maintain lung function, early surfactant replacement therapy, and manage complications.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
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