Mucopolysaccharidosis Panel (12 Genes)
| TEST CODE | MGT0160 |
| TEST NAME | Mucopolysaccharidosis Panel (12 Genes) |
| RELATED GENE | ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH |
| SYNONYMOUS | ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases characterized by glycosaminoglycan accumulation due to a specific enzyme deficiency in lysosomes. Within the scope of the panel, 12 genes associated with this disease, which is chronic, progressive and shows multisystem involvement, are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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