Pediatric interstitial lung disease is a rare entity whose symptoms, management, and prognosis differ from those of the adult form. In some cases, it is associated with genetic defects, particularly in neonatal and infant forms. Most mutations have been identified in genes involved in surfactant metabolism. This panel also includes other genes related to infantile alveolar proteinosis and to other less frequent processes.

Pediatric ILD poses a diagnostic challenge due to its clinical, radiological, and histological overlap with other entities; therefore, genetic testing provides an important diagnostic tool.

Childhood and infant interstitial lung disease panel [21 genes]
ABCA3 ATP11A COPA CSF2RA CSF2RB
FLNA FOXF1 ITGA3 LRBA MARS
NKX2-1 SFTPA1 SFTPA2 SFTPB SFTPC
SFTPD SLC34A2 SLC7A7 STAT3 TBX4
TMEM173