myotonic dystrophy genotyping

Indications

• myotonic dystrophy

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)

Specimen

• whole blood (ACD or EDTA)
• tissue
• store whole blood at 4 degrees C
• store tissue at -20 degrees C or below if nucleic acids cannot be extracted immediately

More general terms

• genotyping (allele testing)

Additional terms

• myotonic dystrophy; Steinert disease; myotonia dystrophica
• myotonin protein kinase gene or myotonic dystrophy-1