Hemophagocytic Lymphohistiocytosis HLH Type 5

TEST CODE MG00240
TEST NAME Hemophagocytic Lymphohistiocytosis HLH Type 5
RELATED GENE STXBP2
SYNONYMOUS STXBP2
OMIM 613101
HEREDITY Autosomal Recessive
CLINICAL AREA Hemophagocytic Lymphohistiocytosis is a disease inherited as HLH Type 5. Mutations in the STXBP2 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA / Amniotic Fluid / Skin Biopsy / CVS / Abortion material / Cord Blood/ Mucosa/ Other
QUANTITY 3 mL
TAT 30 DAYS

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