Familial pulmonary fibrosis

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Inclusion criteria:

  • Clinical syndrome consistent with interstitial lung disease: Breathlessness on exertion or cough, bilateral crepitations on examination, AND
  • A High Resolution CT Scan with evidence of interstitial lung disease, AND
  • A first degree relative with an interstitial lung disease

Exclusion criteria:

  • A respiratory disease other than an interstitial lung disease
  • Any cystic lung disease

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:

  •  SFTPB, SFTPC in childhood onset cases

Closing statement 

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

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