Clinical Indication ID & Name
Tubulointerstitial kidney disease (548)
Test Group
Renal
Specialties
Test code
R202.1
Test name
N/A
Target genes
Tubulointerstitial kidney disease (548)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Renal impairment caused by tubulointerstitial fibrosis with no glomerular lesion, with no identifiable cause, often associated with medullary cysts, hyperuricaemia or gout, AND
2. A first degree relative with TIKD or unexplained end-stage renal disease
Test code
R202.2
Test name
N/A
Target genes
Tubulointerstitial kidney disease (548)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Renal impairment caused by tubulointerstitial fibrosis with no glomerular lesion, with no identifiable cause, often associated with medullary cysts, hyperuricaemia or gout, AND
2. A first degree relative with TIKD or unexplained end-stage renal disease
Commissioning group
Specialised
Overlapping idications
n/a
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