Metachromatic Leukodystrophy

TEST CODE MG01850
TEST NAME Metachromatic Leukodystrophy
RELATED GENE ARSA
SYNONYMOUS ARSA
OMIM 250100
HEREDITY Autosomal Recessive
CLINICAL AREA Metachromatic Leukodystrophy (MLD) is an Autosomal Recessively inherited disease. Mutations in the ARSA 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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