Leukoencephalopathy with Vanis
TEST CODE | MG04420 |
TEST NAME | Leukoencephalopathy with Vanis |
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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