Progressive Myoclonic Epilepsy Type 4

TEST CODE MG08810
TEST NAME Progressive Myoclonic Epilepsy Type 4
RELATED GENE SCARB2
SYNONYMOUS SCARB2
OMIM 602257
HEREDITY Autosomal Recessive
CLINICAL AREA Progressive Myoclonic Epilepsy Type 4 is an Autosomal Recessively inherited disease. Mutations in the SCARB2 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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