Charcot Marie Tooth MFN2 - MPS Deletion Duplication Analysis
TEST CODE | MG00760 |
TEST NAME | Charcot Marie Tooth MFN2 – MPS Deletion Duplication Analysis |
RELATED GENE | MFN2, MPZ,PLOD1 |
SYNONYMOUS | MFN2, MPZ,PLOD1 |
OMIM | 608507.15944 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Charcot-Marie-Tooth is an Autosomal Dominant inherited disease. Mutations in the MFN2 and MPZ genes 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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