Gastrointestinal epithelial barrier disorders


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NB. Clinical test guidance:

  • General biopsy refers to biopsy of abnormal intestinal features
  • Inflammatory markers refers to C reactive protein
  • General Imaging Diagnostics refers to Endoscopy

Inclusion Criteria

  • Proven histological evidence of epithelial disorder on gut biopsy: Epithelial dysmorphology characterised by e.g. epithelial detachment abnormal epithelial cell polarisation, epithelial cell crowding/tufting and increased apoptotic activity of the epithelial layer.

Exclusion Criteria

  • Evidence of primary immune deficiency.
  • Histopathology in keeping with conventional GI disorders such as IBD without features described above.

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:

• EPCAM, MYO5B, ADAM17, IKBKG

Closing statement

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

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