Early Infantile Epileptic Encephalopathy Type2

TEST CODE MG00950
TEST NAME Early Infantile Epileptic Encephalopathy Type2
RELATED GENE CDKL5
SYNONYMOUS CDKL5
OMIM 300672
HEREDITY X-linked Dominant
CLINICAL AREA Early Infantile Epileptic Encephalopathy Type 2 (DEE2) is an X-linked dominantly inherited disease. Mutations in the CDKL5 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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