Interstitial lung disease (ILD) comprises a heterogeneous group of diseases characterized by different degrees of usually progressive and irreversible inflammation and fibrosis in lung tissue. Infant and childhood forms differ from those observed in adults both in clinical presentation and prognosis. A genetic origin has been identified for some of these entities.
Several genes have been associated with the development of these diseases, particularly those related to lung surfactant metabolism and DNA repair mechanisms.
- Idiopathic pulmonary fibrosis and familial pulmonary fibrosis (IPF-FPF) panel [23 genes] view panel >
- Hermansky-Pudlak syndrome (SHP) panel [21 genes] view panel >
- Alveolar proteinosis (AP) panel [9 genes] view panel >
- Childhood and infant interstitial lung disease panel [21 genes] view panel >
- Infant respiratory distress syndrome (IRDS) panel [15 genes] view panel >
- Dyskeratosis congenita (DC) panel [16 genes] view panel >
This panel addresses genetic testing for interstitial lung disease from a comprehensive perspective. It includes genes related to the most frequent entities caused by alterations in surfactant synthesis and processing and by telomerase dysfunction, along with other genes related to less frequent diseases that can manifest as complex phenotypes, sometimes associated with pulmonary fibrosis