Megalencephalic Leukodystrophy

TEST CODE MG00360
TEST NAME Megalencephalic Leukodystrophy
RELATED GENE MLC1
SYNONYMOUS MLC1
OMIM 604004
HEREDITY Autosomal Recessive
CLINICAL AREA Megalencephalic Leukodystrophy is an Autosomal Recessively inherited disease. Mutations in the MLC1 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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