Non-CF bronchiectasis


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Inclusion Critieria

  •  FEV1< 30% predicted and age 4 lobes involved in bronchiectasis < aged 50

OR

  • Extensive multilobar disease

OR

  •  2 or greater immediate family members affected

OR

  •  High chloride in sweat test but CFTR mutation analysis (including extended NHS funded analysis) negative

OR

  • Bronchiectasis with any suspected underlying immunodeficiency aspect to be cross referenced with immunodeficiency GeCiP, e.g. bronchiectasis and recurrent non pulmonary infections

OR

  • Bronchiectasis with any suspected underlying ciliopathy

OR

  • Young’s Syndrome

OR

  •  Mounier Kuhn syndrome (tracheobronchomegaly)

Exclusion Critieria

  • 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

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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