Severe Combined Immunodeficiency HLA CLASS II NEGATIVE

TEST CODE MG08440
TEST NAME Severe Combined Immunodeficiency HLA CLASS II NEGATIVE
RELATED GENE RFX5
SYNONYMOUS RFX5
OMIM 601863
HEREDITY Autosomal Recessive
CLINICAL AREA Severe Combined Immunodeficiency is an autosomal recessive disease. Mutations in the RFX5 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 ml
TAT 40 DAYS

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