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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old