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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.

Search the NHS test catalogue

R15
Primary immunodeficiency or monogenic inflammatory bowel disease Immunology
R157
IPEX – Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked Endocrinology
R16
Severe combined immunodeficiency with adenosine deaminase deficiency Immunology
R17
Lymphoproliferative syndrome with absent SAP expression Immunology
R18
Haemophagocytic syndrome with absent XIAP expression Immunology
R19
Autoimmune lymphoproliferative syndrome with defective apoptosis Immunology
R232
Haemophagocytic syndrome with absent perforin expression Immunology
R233
Agammaglobulinaemia with absent BTK expression Immunology
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