OMIM# | 160900 |
Gen | DMPK (19q13.3) |
Inheritance | Autosomal dominant. |
Mutations | CTG-repeat expansion. |
Specimen | 7,5 ml blood in EDTA-glass. |
Analysis | Pre-screening with PCR. The size of an expanded allele is determined with Southern blotting technique. |
Delivery | Mail. Monday to Friday. |
Turn around time | 6 weeks. |
Prenatal diagnosis | Only by prior arrangement and only for known familial amplifications. Turn around time: less than 2 weeks, contact the attending for further information. |