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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