Beckwith - Wiedemann Syndrome MLPA
| TEST CODE | MG00680 |
| TEST NAME | Beckwith – Wiedemann Syndrome MLPA |
| RELATED GENE | H19, IGF2, CDKN1C, KCNQ1 |
| SYNONYMOUS | H19, IGF2, CDKN1C, KCNQ1 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Beckwith-Wiedemann Syndrome is an autosomal recessive disease. Mutations in the 11p15 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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