Charcot Marie Tooth Type 1A PMP22 MLPA
| TEST CODE | MG00750 |
| TEST NAME | Charcot Marie Tooth Type 1A PMP22 MLPA |
| RELATED GENE | PMP22,KIF1B,ELAC2,COX10,TEKT3,DRC3 |
| SYNONYMOUS | PMP22,KIF1B,ELAC2,COX10,TEKT3,DRC3 |
| OMIM | 118220 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Charcot-Marie-Tooth Type 1A is an autosomal dominantly inherited disease. Mutations in the PMP22 gene have been associated with the disease. This test screens for deletion/duplication type mutations in the disease-related gene using the MLPA method. |
| METHOD | MLPA |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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