Craniofrontonasal Dysplasia
TEST CODE | MG04170 |
TEST NAME | Craniofrontonasal Dysplasia |
RELATED GENE | EFNB1 |
SYNONYMOUS | EFNB1 |
OMIM | 304110 |
HEREDITY | X’e Bağlı Dominant |
CLINICAL AREA | Craniofrontonasal Dysplasia is an X-linked dominantly inherited disease. Mutations in the EFNB1 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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