| OMIM# | |
| Gen | PMP22 (periphery myelinprotein-22) (17p11.2). |
| Inheritance | Autosomal dominant. |
| Mutations | Deletion of approximately 1,5 Mb in 17p11.2 detected in most of the patients with the disease. A few have a mutation in PMP22. |
| Specimen | 7,5 ml blood in EDTA-glass. |
| Analysis | MLPA-analysis for deletion. Screening for PMP22 with DNA-sequencing. |
| Delivery | Mail. Monday to Friday. |
| Turn around time | MLPA-analysis: 6 weeks. Screening PMP22: 6 months. Known mutation: 4 weeks. |