Carnitine Palmitoyltransferase 1
| TEST CODE | MG05370 |
| TEST NAME | Carnitine Palmitoyltransferase 1 |
| RELATED GENE | CPT1A |
| SYNONYMOUS | CPT1A |
| OMIM | 600528 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Carnitine Palmitoyltransferase Deficiency 1 is an Autosomal Recessively inherited disease. Mutations in the CPT1A 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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