Carbamyl Phosphate Synthetase Deficiency
| TEST CODE | MG09640 |
| TEST NAME | Carbamyl Phosphate Synthetase Deficiency |
| RELATED GENE | CPS1 |
| SYNONYMOUS | CPS1 |
| OMIM | 237300 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Jervell and Lange-Nielsen syndrome 2 is an autosomal recessively inherited disease. Mutations in the CPS1 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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