Severe Congenital Neutropenia 4

TEST CODE MG05470
TEST NAME Severe Congenital Neutropenia 4
RELATED GENE G6PC3
SYNONYMOUS G6PC3
OMIM 612541
HEREDITY Autosomal Recessive
CLINICAL AREA Severe Congenital Neutropenia 4 is an autosomal recessive disease. Mutations in the G6PC3 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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