OMIM#160900


Gen DMPK
(19q13.3)


Inheritance Autosomal dominant.


MutationsCTG-repeat expansion.


Specimen7,5 ml blood in EDTA-glass.


AnalysisPre-screening with PCR.
The size of an expanded allele is determined with Southern blotting technique.


DeliveryMail. Monday to Friday.

Turn around time6 weeks.


Prenatal diagnosisOnly by prior arrangement and only for known familial amplifications. 
Turn around time: less than 2 weeks, contact the attending for further information.