Cystic kidney disease

« Back to Disease List

Inclusion Criteria

  • – >5 cysts affecting one or both kidneys


  • Unaffected individuals have undergone appropriate screening for cryptic disease e.g. renal ultrasound scan
  • Individuals with severe or syndromic disease should be recruited according to standard guidance, preferably as trios
  • In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.


  •  Participants with features suggestive of classical ADPKD (autosomal dominant polycystic kidney disease) who have not undergone prior genetic testing of PKD1 and PKD2 should be recruited initially as singletons. In families where analysis as a singleton does not lead to identification of the underlying causative mutation, recruitment of additional affected family members is encouraged.

Exclusion Criteria

  • Advanced or end-stage kidney failure due to identified (non-cystic) disease
  •  Multicystic dysplastic kidney(s) (see CAKUT)

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:

  • PKD1 and PKD2 if kidneys enlarged for age (or >12cm in length in adults). PKHD1 if family history and phenotype consistent with AR PKD. These genes need not be tested if other phenotypic features make them unlikely to be causative.

Closing statement 

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

« Back to Disease List