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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