Charcot Marie Tooth PMP22 Sequence Analysis
TEST CODE | MG03250 |
TEST NAME | Charcot Marie Tooth PMP22 Sequence Analysis |
RELATED GENE | PMP22 |
SYNONYMOUS | PMP22 |
OMIM | 118220 118300 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Charcot Marie Tooth Type 1A and 1E is an Autosomal Dominant inherited disease. Mutations in the PMP22 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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