NHS Directory of Genetic Disorders/Genes for Diagnostic Testing

The NHS Directory of Genetic Disorders/Genes for Diagnostic Testing (formerly NHS Directory of Genetic Testing) is a hard copy reference resource listing all the disorders and associated genes for the test services offered through UKGTN. It is primarily a reference for commissioners indicating which tests have been recommended for NHS service. All the tests have been evaluated by UKGTN for clinical validity and utility. The directory is updated annually to incorporate new tests approved for service from April to align with commissioning contracts.  A searchable online version of the directory is available here.

Further details of the test services offered by UKGTN member laboratories are available through searching the UKGTN database of test services.