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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