Pneumology – NX-GEN

Pneumology

Next Generation Sequencing (NGS) technology enables comprehensive genetic testing for inherited respiratory conditions. These tests help diagnose genetic lung disorders, inform treatment decisions, and provide valuable insights for managing inherited respiratory conditions.

Collection Centers
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Laboratories
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Tests Done
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Central Hypoventilation Syndrome
Genetic testing analyzing the PHOX2B gene and related genes associated with breathing control disorders. Recommended for infants with breathing difficulties during sleep, autonomic nervous system problems, or family history of central hypoventilation.
Comprehensive Pulmonary Disease
NGS analysis covering genes associated with various inherited lung disorders. Essential for individuals with unexplained respiratory problems, structural lung abnormalities, or family history of genetic lung conditions.
Pulmonary Hypertension
Genetic testing examining genes linked to inherited forms of pulmonary hypertension. Recommended for individuals with unexplained high blood pressure in the lungs, shortness of breath, fatigue, or family history of pulmonary hypertension.
Surfactant Metabolism Dysfunction
Analysis of genes involved in lung surfactant production and function. Essential for newborns with severe respiratory distress, children with chronic lung disease, or families with history of early-onset lung problems.

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