Order or find a test

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

R169

Acute intermittent porphyria Gastrohepatology

R191

Alpha-1-antitrypsin deficiency Respiratory

R171

Cholestasis Gastrohepatology

R176

Gilbert syndrome Gastrohepatology

R274

Glycogen storage disease Metabolic

R273

Glycogen storage disease V Metabolic

R96

Iron metabolism disorders – NOT common HFE mutations Haematology

R95

Iron overload – hereditary haemochromatosis testing Core

R317

Mitochondrial liver disease, including transient infantile liver failure Mitochondrial

R168

Non-acute porphyrias Gastrohepatology

Go to Service Turnaround Times