Important changes to Renal tests in the Rare and Inherited Disease Test Directory
I am contacting you to inform you of several updates to renal genomic testing in the new version of the Rare and Inherited Disease Test Directory. Please review this information alongside the relevant sections of the Rare and Inherited disease Test Directory (https://www.england.nhs.uk/publication/national-genomic-test-directories/) (opens in a new tab) to ensure that you are aware of any updates that may affect your practice.
Move to WGS technology - R195 Proteinuric renal disease
Testing for the R195 Proteinuric Renal Disease Clinical Indication will be moving to Whole Genome Sequencing (WGS). Please ensure that WGS test orders and Record of Discussion forms are submitted for new patients.
Information about WGS testing can be found on the East Genomics Rare Disease Whole Genome Sequencing web pages (https://www.eastgenomics.nhs.uk/for-healthcare-professionals/genomic-tests/rare-and-inherited-diseases/genome-sequencing/). Please contact the WGS team at Cambridge with any queries: emee.glh@nhs.net.
New Clinical Indication - R446 APOL1 kidney donor testing
Genetic testing can be used to inform potential kidney donors of an increased risk of kidney failure due to APOL1 genetic variants.
Testing criteria: Testing for potential living donors, where ALL the following criteria are met:
- The individual is being assessed for living kidney donation
- Both the individual’s parents have (or are likely to have) African, African-American, Caribbean or Brazilian heritage
- Individual has undergone counselling and understands the indications and implications of testing and has provided consent.
For further information please see the British Transplantation Society guidelines (https://bts.org.uk/apol1-testing-in-potential-living-kidney-donors/) (opens in a new tab)