Creatine Synthesis Disorder 2
| TEST CODE | MG06560 |
| TEST NAME | Creatine Synthesis Disorder 2 |
| RELATED GENE | GAMT |
| SYNONYMOUS | GAMT |
| OMIM | 612736 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Cerebral Creatine Deficiency Syndrome 2 is an Autosomal Recessively inherited disease. Mutations in the GAMT 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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