OMIM# | 302800 |
Gen | GJB1 (connexin) (Xq13.1) |
Inheritance | X-linked dominant. |
Mutations | Different. |
Specimen | 7,5 ml blood in EDTA-glass. |
Analysis | Screening for mutation med DNA-sequencing. |
Delivery | Mail, we receive samples Monday to Friday. Within the opening hours. |
Response time | Screening GJB1: 6 month. Known mutation: 4 weeks. |
Prenatal diagnosis | Only by prior arrangement and only for known mutations. Response time: less than 2 weeks, contact the attending for further information. |