Epileptic Encephalopathy, Early Infantile, 17

TEST CODE MG05200
TEST NAME Epileptic Encephalopathy, Early Infantile, 17
RELATED GENE GNAO1
SYNONYMOUS GNAO1
OMIM 615473
HEREDITY Autosomal Dominant
CLINICAL AREA Epileptic Encephalopathy 17 is an autosomal dominantly inherited disease. Mutations in the GNAO1 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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