NF1 MLPA Deletion/Duplication Analysis

TEST CODE MG04900
TEST NAME NF1 MLPA Deletion/Duplication Analysis
RELATED GENE NF1
SYNONYMOUS NF1
OMIM 162200
HEREDITY Autosomal Dominant
CLINICAL AREA Neurofibromatosis Type 1 is an autosomal dominantly inherited disease. Mutations in the NF1 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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