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.

Included panels:

  • 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 >
Interstitial lung disease and surfactant dysfunction comprehensive panel [68 genes]

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

ABCA3 ACD AKAP13 AP3B1 ATP11A
BLOC1S3 BLOC1S6 CHPT1 COPA CSF2RA
CSF2RB CTC1 DKC1 DPP9 DSP
DTNBP1 ELMOD2 FAM13A FLNA FLCN
FOXF1 GAR1 GRHL2 HPS1 HPS3
HPS4 HPS5 HPS6 ITGA3 LIG4
LPCAT1 LRBA MARS MUC5B NAF1
NF1 NHP2 NKX2-1 NOP10 NPC1
NPC2 OCA2 PARN PCYT1B RTEL1
SERPINA1 SFTPA1 SFTPA2 SFTPB SFTPC
SFTPD SLC34A2 SLC7A7 SMPD1 STAT3
STN1 TBX4 TERC TERT TINF2
TMEM173 TOLLIP TSC1 TSC2 TYR
TYRP1 USB1 WRAP53