Search
myotonic dystrophy genotyping
Indications:
- myotonic dystrophy
Specimen:
1) whole blood (ACD or EDTA)
2) tissue
3) store whole blood at 4 degrees C
4) store tissue at -20 degrees C or below if nucleic acids cannot be extracted immediately
Clinical significance:
- expansion of the trinucleotide repeat CTG within the myotonin protein kinase gene is the most common mutation associated with myotonic dystrophy
- the mutant allele, when inherited from the mother is associated with an early age of onset (congenital form)
Related
myotonic dystrophy; Steinert disease; myotonia dystrophica
myotonin protein kinase gene or myotonic dystrophy-1
General
genotyping (allele testing)
References
Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed.,
W.B. Saunders, 1995