Epileptic Encephalopathy Type 19

TEST CODE MG05170
TEST NAME Epileptic Encephalopathy Type 19
RELATED GENE GABRA1
SYNONYMOUS GABRA1
OMIM 615744
HEREDITY Autosomal Dominant
CLINICAL AREA Epileptic Encephalopathy Type 19 is an Autosomal Dominant inherited disease. Mutations in the GABRA1 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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