Lung Diseases

Hereditary lung diseases are genetically determined disorders that can impair lung function. These include pulmonary arterial hypertension (PAH), which can lead to heart failure, and idiopathic pulmonary fibrosis, which causes severe shortness of breath due to progressive scarring of lung tissue.

Request Test

  • Sample Material: EDTA Whole Blood
  • Analysis Method: Next-Generation Sequencing (NGS)
  • Turnaround Time: from 2 weeks
  • Required documents:

Detailed information on sample submission can be found here.

DIAGNOSTIC OFFERING

The following table presents our indication-specific testing services in this area:

INDICATION ANALYSIS
Idiopathic Pulmonary Fibrosis Gene Panel
Pulmonary Arterial Hypertension (PAH) Gene Panel

The genes examined in the respective gene panels are always based on the current versions of the Genomics England PanelApp, the PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.

If the suspected diagnosis or indication is not listed here, or if it is a complex syndromic disease, it is possible to request exome sequencing based on phenotypic features.

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