Immunodeficiency Type 31

TEST CODE MG07400
TEST NAME Immunodeficiency Type 31
RELATED GENE STAT1
SYNONYMOUS STAT1
OMIM 600555
HEREDITY Autosomal Recessive, Autosomal Recessive
CLINICAL AREA Immunodeficiency Type 31 is an autosomal recessive, autosomal dominant inherited disease. Mutations in the STAT1 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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