- FEV1< 30% predicted and age 4 lobes involved in bronchiectasis < aged 50
- Extensive multilobar disease
- 2 or greater immediate family members affected
- High chloride in sweat test but CFTR mutation analysis (including extended NHS funded analysis) negative
- Bronchiectasis with any suspected underlying immunodeficiency aspect to be cross referenced with immunodeficiency GeCiP, e.g. bronchiectasis and recurrent non pulmonary infections
- Bronchiectasis with any suspected underlying ciliopathy
- Young’s Syndrome
- Mounier Kuhn syndrome (tracheobronchomegaly)
- Late onset, single lobe disease and those where Asthma or COPD are felt much more clearly the primary driver/ aetiology of the bronchiectasis
Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- CFTR where clinically indicated
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List