Megalencephalic Leukodystrophy

TEST CODE MG00360
TEST NAME Megalencephalic Leukodystrophy
RELATED GENE MLC1
SYNONYMOUS MLC1
OMIM 604004
HEREDITY Autosomal Recessive
CLINICAL AREA Megalencephalic Leukodystrophy is a disease inherited in an autosomal recessive manner. 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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