Epileptic Encephalopathy Type 13

TEST CODE MG03960
TEST NAME Epileptic Encephalopathy Type 13
RELATED GENE SCN8A
SYNONYMOUS SCN8A
OMIM 614558
HEREDITY Autosomal Dominant
CLINICAL AREA Epileptic Encephalopathy Type 13 is an Autosomal Dominant inherited disease. Mutations in the SCN8A 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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