| OMIM# | 118220 |
| Gen | PMP22 (periphery myelinprotein-22) (17p11.2) |
| Inheritance | Autosomal dominant. |
| Mutations | Duplication of approximately 1,5 Mb in 17p11.2. Few have mutations in PMP22. Detected in approximately 60% with the disease. |
| Specimen | 7,5 ml blood in EDTA-glass. |
| Analysis | MLPA-analysis for duplication. Screening of PMP22 with HRM-technique. |
| Delivery | Mail, Monday to Friday. |
| Turn around time | MLPA-analysis: 6 weeks. Screening PMP22: 6 month. Known mutation: 4 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. |