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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

R240

Diagnostic testing for known mutation(s) Core/Specialised

R346

DNA to be stored Core

R375

Family follow-up testing to aid variant interpretation Core/Specialised

R409

Linkage testing for other recognisable Mendelian disorders Core/Specialised

R371

Malignant hyperthermia Neurology

R374

Other sample to be stored Core

R407

Patient undergoing Allogeneic Haematopoietic Stem Cell transplantation Core/Specialised

R373

RNA to be stored Core

R322

Skin fibroblasts to be cultured and stored Core

Go to Service Turnaround Times