Hereditary lung diseases

The best known genetic lung disease is cystic fibrosis (CF), caused by pathogenic variants in the CFTR gene, which most frequently manifests with involvement of the lungs and pancreas. However, there are also other indications for genetic testing when a rare lung disease is suspected.

These include in particular

• Primary ciliary dyskinesia
• Pulmonary arterial hypertension
• Alpha-1 antitrypsin deficiency

If cystic fibrosis is suspected, we offer a stepwise diagnostic approach:

1st stage: analysis of the 31 most frequent pathogenic variants in the CFTR gene (Elucigene® CF-DE kit)

2nd step: Complete sequencing of the CFTR gene by NGS analysis

3rd step: deletion/duplication analysis of the CFTR gene by multiplex ligation-dependent probe amplification (MLPA)