Familial Hypobetalipoproteinemia Type 2

TEST CODE MG08990
TEST NAME Familial Hypobetalipoproteinemia Type 2
RELATED GENE ANGPTL3
SYNONYMOUS ANGPTL3
OMIM 604774
HEREDITY Autosomal Recessive
CLINICAL AREA Familial Hypobetalipoproteinemia Type 2 is an autosomal recessive disease. Mutations in the ANGPTL3 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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