Clinical Indication ID & Name
Cystic renal disease (487)
Test Group
Renal
Specialties
Test code
R193.4
Test name
N/A
Target genes
Cystic renal disease (487)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
1. Patients with non-syndromic cystic renal disease (excluding acquired cystic disease due to chronic or end stage kidney disease) which is EITHER
2. Clinically not characteristic of ADPKD and underlying diagnosis is required for management purposes, OR
3. Clinically symptomatic disease presenting before the age of 18, OR
4. Clinical diagnosis of ADPKD where a genetic diagnosis is required to influence management
Commissioning group
Specialised
Overlapping idications
• R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form