Gangliosidosis Type 1, 2, 3
TEST CODE | MG01120 |
TEST NAME | Gangliosidosis Type 1, 2, 3 |
RELATED GENE | GLB1 |
SYNONYMOUS | GLB1 |
OMIM | Tip1: 230500, Tip2: 230600, Tip3: 230650 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Gangliosidosis Type 1, 2, 3 (GM1G1, GM1G2, GM1G3) is an Autosomal Recessively inherited disease. Mutations in the GLB1 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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