Beckwith-Wiedemann Syndrome
TEST CODE | MG04050 |
TEST NAME | Beckwith-Wiedemann Syndrome |
RELATED GENE | CDKN1C |
SYNONYMOUS | CDKN1C |
OMIM | 130650 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Beckwith – Wiedemann Syndrome is an autosomal dominantly inherited disease. Mutations in the CDKN1C 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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