Clinical Indication ID & Name
Unexplained young onset end-stage renal disease (678)
Test Group
Renal
Specialties
Test code
R257.2
Test name
N/A
Target genes
Unexplained young onset end-stage renal disease (678)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
End-stage renal disease developing under the age of 36, with no identifiable cause detectable by renal biopsy, biochemistry, imaging or clinical assessment
Use of this test in young adults over the age of 36 may be appropriate after expert clinical review, if there is strong clinical suspicion of a monogenic disorder
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
Rare Disese WGS Clinician pack
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