Mucolipidosis Type 2 A/B
TEST CODE | MG03120 |
TEST NAME | Mucolipidosis Type 2 A/B |
RELATED GENE | GNPTAB |
SYNONYMOUS | GNPTAB |
OMIM | 252500 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Mucolipidosis Type 2 A/B is an autosomal recessive inherited disease. Mutations in the GNPTAB 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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