OMIM# | 300376 |
Gen | DMD (dystrofin) (Xp21) |
Inheritance | X-linked recessiv. |
Mutations | Deletion/duplication of one or more of the 79 exons. Detected in approximately 65-70% with Becker. |
Specimen | 7,5 ml. blood in EDTA-glass. |
Analysis | MLPA-analysis. |
Delivery | Mail, we receive samples Monday to Friday. Within the opening hours. |
Turn around time | 6 weeks. |
Prenatal diagnosis | Only by prior arrangement and only for known causes. Turn around time: less than 2 weeks, contact the attending for further information. |