Hemophagocytic Lymphohistiocytosis HLH Type 2

TEST CODE MG00210
TEST NAME Hemophagocytic Lymphohistiocytosis HLH Type 2
RELATED GENE PRF1
SYNONYMOUS PRF1
OMIM 603553
HEREDITY Autosomal Recessive
CLINICAL AREA Hemophagocytic Lymphohistiocytosis HLH Type 2 is an autosomal recessively inherited disease. Mutations in the PRF1 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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