Sequencing Panels

Turnaround time (TAT): 5 weeks

Susceptibility to respiratory infections
  • Susceptibility to respiratory infections comprehensive panel [350 genes]
  • Susceptibility to respiratory infections panel [51 genes]
  • Cystic fibrosis basic panel [1 gene]
  • Cystic fibrosis extended panel [8 genes]
  • Bronchiectasis (BC) panel [48 genes]
  • Primary ciliary dyskinesia (PCD) specific panel [43 genes]
  • Primary immunodeficiency (PID) panel [301 genes]
Cystic lung diseases
  • Cystic lung diseases comprehensive panel [10 genes]
  • Alpha-1 antitrypsin deficiency (A1AD) specific panel [1 gene]
Interstitial lung diseases
  • Interstitial lung disease and surfactant dysfunction comprehensive panel [68 genes]
  • Idiopathic pulmonary fibrosis and familial pulmonary fibrosis (IPF-FPF) panel [23 genes]
  • Hermansky-Pudlak syndrome (SHP) panel [21 genes]
  • Alveolar proteinosis (AP) panel [9 genes]
  • Childhood and infant interstitial lung disease panel [21 genes]
  • Infant respiratory distress syndrome (IRDS) panel [15 genes]
  • Dyskeratosis congenita (DC) panel [16 genes]
Pulmonary artery hypertension
  • Pulmonary artery hypertension (PAH) panel [25 genes]
Global panel
  • Respiratory diseases that have a genetic basis [427 genes]

Other services

Exome sequencing

Check all the exomes that we offer:

See all exomes
Variant segregation / Family studies

TAT (turnaround time): 2 weeks

Sanger sequencing studies on carriers of variants that have been previously described in the family.

Gene sequencing

TAT (turnaround time): 35 days

Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).