Multiple Exocytosis Type 1

TEST CODE MG02190
TEST NAME Multiple Exocytosis Type 1
RELATED GENE EXT1
SYNONYMOUS EXT1
OMIM 133700
HEREDITY Autosomal Dominant
CLINICAL AREA Multiple Exocytosis Type 1 is an Autosomal Dominant inherited disease. Mutations in the EXT1 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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