Clinical Indication ID & Name
Nephrocalcinosis or nephrolithiasis (149)
Test Group
Renal
Specialties
Test code
R256.1
Test name
N/A
Target genes
Nephrocalcinosis or nephrolithiasis (149)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Nephrocalcinosis or nephrolithiasis where acquired causes have been excluded
Test code
R256.2
Test name
N/A
Target genes
Nephrocalcinosis or nephrolithiasis (149)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Nephrocalcinosis or nephrolithiasis where acquired causes have been excluded
Commissioning group
Specialised
Overlapping idications
• Where a primary endocrine disturbance of calcium homeostasis is identified, the appropriate specific test should be used • In individuals with an identifiable primary renal disorder, the specific test for that disorder should be used where genetic testing is appropriate • Individuals with nephrocalcinosis likely to be caused by Bartter syndrome can be tested using this indication; individuals with a different presentation of Bartter syndrome should be tested using R198 Renal tubulopathies
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