Multiple Exocytosis, Type2

TEST CODE MG07980
TEST NAME Multiple Exocytosis, Type2
RELATED GENE EXT2
SYNONYMOUS EXT2
OMIM 133701
HEREDITY Autosomal Dominant
CLINICAL AREA Multiple Exocytosis is a Type2 Autosomal Dominant inherited disease. Mutations in the EXT2 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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