RAG1 single gene test


Test code: S01535

Phenotype information

  • Omenn syndrome
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
  • T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency
  • Combined cellular and humoral immune defects with granulomas

Alternative gene name

RNF74, MGC43321

Panels that include the gene

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For pricing inquiries, please contact (support@blueprintgenetics.com) or call the sales support team +358 40 2511 372.

Total $
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Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.

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