Cerebral Creatine Deficiency Syndrome Type 3
| TEST CODE | MG07330 |
| TEST NAME | Cerebral Creatine Deficiency Syndrome Type 3 |
| RELATED GENE | GATM |
| SYNONYMOUS | GATM |
| OMIM | 612718 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Cerebral Creatine Deficiency Syndrome Type 3 is an Autosomal Recessively inherited disease. Mutations in the GATM 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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