Familial Hirschsprung Disease


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Inclusion criteria

Diagnosis of Hirschsprung disease (HSCR) as proven with histology AND ONE OR MORE OF

  1. Family history of HSCR, at least 2 affected first or second degree members, OR
  2. Parental consanguinity, OR
  3. HSCR occurring as part of a syndrome or with other anomalies

Exclusion criteria

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:

  • RET and other tests as relevant if additional features are present e.g. microarray, ZEB2 (Mowat-Wilson syndrome).

Closing statement

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

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