Congenital Neutropenia Type 2

TEST CODE MG01570
TEST NAME Congenital Neutropenia Type 2
RELATED GENE HAX1
SYNONYMOUS HAX1
OMIM 610738
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital Neutropenia Type 2 (SCN3) is a disease inherited in an autosomal recessive manner. Mutations in the HAX1 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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