Epileptic encephalopathy Type 25

TEST CODE MG07340
TEST NAME Epileptic encephalopathy Type 25
RELATED GENE SLC13A5
SYNONYMOUS SLC13A5
OMIM 615905
HEREDITY Autosomal Recessive
CLINICAL AREA Developmental and Epileptic Encephalopathy Type 25 is an Autosomal Recessively inherited disease. Mutations in the SLC13A5 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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