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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