Juvenile Myoclonic Epilepsy

TEST CODE MG08940
TEST NAME Juvenile Myoclonic Epilepsy
RELATED GENE EFHC1
SYNONYMOUS EFHC1
OMIM 254770
HEREDITY Autosomal Dominant
CLINICAL AREA Juvenile Myoclonic Epilepsy is an autosomal dominantly inherited disease. Mutations in the EFHC1 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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