Maple Syrup Urine Disease Panel (3 Genes)
| TEST CODE | MGN0100 |
| TEST NAME | Maple Syrup Urine Disease Panel (3 Genes) |
| RELATED GENE | BCKDHA, BCKDHB, DBT |
| SYNONYMOUS | BCKDHA, BCKDHB, DBT |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Maple Syrup Urine disease is an inherited disease in which the body cannot process certain amino acids properly. It takes its name from the distinctive sweet smell of the urine of affected babies. It is also characterized by malnutrition, vomiting, lack of energy (lethargy), abnormal movements and developmental delay. If left untreated, it can cause seizures, coma and death. Within the scope of the panel, 3 genes associated with the disease are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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