OMIM# | |
Gen | EDA (Ectodysplasin A) (Xq12-q13.1) |
Inheritance | X-linked recessive. |
Mutations | Different. |
Specimen | 7,5 ml blood in EDTA-glass. |
Analysis | Screening for mutation in coding regions of EDA with DNA-sequencing and MLPA-analysis. |
Delivery | Mail. Monday to Friday. |
Turn around time | Screening: 3 months. Known mutation: 4 weeks. |
Prenatal diagnosis | Only by prior arrangement and only for known familial mutations. |