Vanishing White Matter Leukoencephalopathy

TEST CODE MG07730
TEST NAME Vanishing White Matter Leukoencephalopathy
RELATED GENE EIF2B5
SYNONYMOUS EIF2B5
OMIM 603896
HEREDITY Autosomal Recessive
CLINICAL AREA Vanishing White Matter Leukoencephalopathy is an Autosomal Recessively inherited disease. Mutations in the EIF2B5 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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