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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.

R419

Acute Rhabdomyolysis Neurology

R57

Childhood onset dystonia, chorea or related movement disorder Neurology

R61

Childhood onset hereditary spastic paraplegia Neurology

R109

Childhood onset leukodystrophy Neurology

R171

Cholestasis Gastrohepatology

R28

Congenital malformation and dysmorphism syndromes – microarray only Core

R334

Cystinosis Metabolic

R59

Early onset or syndromic epilepsy Neurology

R335

Fabry disease Metabolic

R324

Familial Chylomicronaemia Syndrome (FCS) Metabolic

Go to Service Turnaround Times