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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.

R204

Amyloidosis (502) Renal

R294

Ataxia telangiectasia – DNA repair testing Neurology

R295

Ataxia telangiectasia – mutation testing Neurology

R201

Atypical haemolytic uraemic syndrome (139) Renal

R19

Autoimmune lymphoproliferative syndrome with defective apoptosis Immunology

R90

Bleeding and platelet disorders Haematology

R362

Carrier testing for sickle cell disease Haematology

R124

Combined factor V and VIII deficiency Haematology

R123

Combined vitamin K-dependent clotting factor deficiency Haematology

R229

Confirmed Fanconi anaemia or Bloom syndrome – mutation testing Haematology

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