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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.

R15

Primary immunodeficiency or monogenic inflammatory bowel disease Immunology

R157

IPEX – Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked Endocrinology

R169

Acute intermittent porphyria Gastrohepatology

R170

Variegate porphyria Gastrohepatology

R175

Pancreatitis Gastrohepatology

R177

Hirschsprung disease Gastrohepatology

R184

Cystic fibrosis diagnostic test Core

R186

Hereditary haemorrhagic telangiectasia Respiratory

R191

Alpha-1-antitrypsin deficiency Respiratory

R204

Amyloidosis (502) Renal

Go to Service Turnaround Times