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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