| OMIM# | 105830 |
| Mutations | Analysis for deletion, uniparental disomi and abnormal methylation in the candidate region for Angelman syndrome in 15q11-q13. Abnormal test results is detected in 75% with the disease. Angelmann syndrome can also be caused by a mutation in UBE3A. |
| Analysis | MLPA-analysis. |
| Specimen | 7,5 ml blood in EDTA-glass. |
| Delivery | Mail, Monday to Friday within the opening hours. |
| Turn around time | 6 weeks. |
| Prenatal diagnosis | Only by prior arrangement. Turn around time less than 2 weeks, contact the attending for further information. |