GLUT1 Deficiency

TEST CODE MG03180
TEST NAME GLUT1 Deficiency
RELATED GENE SLC2A1
SYNONYMOUS SLC2A1
OMIM 606777 612126
HEREDITY Autosomal Dominant / Autosomal Recessive
CLINICAL AREA GLUT1 Deficiency is an autosomal recessive or dominantly inherited disease. Mutations in the SLC2A1 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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