Urea Cycle Defect Panel (6 Genes)
| TEST CODE | MGT0170 |
| TEST NAME | Urea Cycle Defect Panel (6 Genes) |
| RELATED GENE | ARG1, ASL, ASS1, CPS1, NAGS, OTC |
| SYNONYMOUS | ARG1, ASL, ASS1, CPS1, NAGS, OTC |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Urea Cycle Defects (UCDs) are a group of rare inherited metabolic disorders with Autosomal Recessive inheritance that result in the accumulation of various nitrogenous metabolites, including ammonia, glutamine, and alanine, due to partial or complete deficiency of one of the components of the urea cycle. Within the scope of the panel, 6 genes related to the disease are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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