NF2 MLPA Deletion/Duplication Analysis

TEST CODE MG06030
TEST NAME NF2 MLPA Deletion/Duplication Analysis
RELATED GENE NF2,AP1B1,NIPSNAP1,CABP7
SYNONYMOUS NF2,AP1B1,NIPSNAP1,CABP7
OMIM 607379
HEREDITY Autosomal Dominant, Somatic
CLINICAL AREA Neurofibromatosis Type 2 is an autosomal dominant and somatically inherited disease. Mutations in the NF2 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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