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.

R362

Carrier testing for sickle cell disease Haematology

R401

Common aneuploidy testing – prenatal Core

R184

Cystic fibrosis diagnostic test Core

R275

Glutaric acidaemia I Screening

R94

HbSS sickle cell anaemia Haematology

R279

Isovaleric acidaemia Screening

R105

MCADD – Medium-chain acyl-CoA dehydrogenase deficiency – common variant Screening

R305

NIPD for cystic fibrosis – mutation testing NIPD

R318

Recurrent miscarriage with products of conception available for testing Core

R93

Thalassaemia and other haemoglobinopathies Haematology

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