Hemophagocytic Lymphohistiocytosis HLH Type 4

TEST CODE MG00230
TEST NAME Hemophagocytic Lymphohistiocytosis HLH Type 4
RELATED GENE STX11
SYNONYMOUS STX11
OMIM 603552
HEREDITY Autosomal Recessive
CLINICAL AREA Hemophagocytic Lymphohistiocytosis HLH Type 4 is an autosomal recessively inherited disease. Mutations in the STX11 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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