A. One or more of:
- Renal hypodysplasia or agenesis
- Congenital multicystic kidney
- Congenital, persistent, severe hydroureter
- Congenital, persistent, severe congenital hydronephrosis
- Bladder exstrophy
- Posterior urethral valves
In the presence or absence of family history or other features
B. One or more of:
- Duplex kidney
- Vesicoureteric reflux
- Vesicoureteric or ureteropelvic junction obstruction
AND (for A. or B.)
- Syndromic disease OR
- Family history of CAKUT
AND (for A. or B.)
- Unaffected individuals have undergone appropriate investigation 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.
- Clinical or molecular diagnosis of autosomal dominant or autosomal recessive polycystic kidney disease
- Known causative genetic or chromosomal abnormality
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:
- HNF1B if personal or family history of diabetes mellitus
- SALL1 if 2 out of imperforate anus, ear abnormalities, thumb abnormalities
These requirements will be kept under continual review during the main programme and may be subject to change« Back to Disease List