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
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