Solution reagent kit Adellgene®

diagnosticcardiacclinical

Kit for the determination of the CTG triplet repeats number of the DMPK gene by fluorescent fragment analysis Information about the product Myotonic dystrophy type 1 or Steinert’s disease is currently the most common form of muscular dystrophy in adults. Inheritance of this multisystem disease is autosomal dominant, and phenotypic expression is highly variable due to an unstable expansion CTG trinucleotide repeats dystrophia myotonica protein kinase gene (DMPK, MIM*605377). There is a correlation between the number of CTG repeats and the age of appearance and severity of symptoms: Mild phenotype (50-100 CTG repeats): associated with clinical manifestations such as mild myotonia or cataracts. The age of appearance for symptoms ranges from 20 to 70 years old. Classic phenotype (100-1000 CTG repeats): patients with this phenotype may present myotonia, baldness, cataracts, cardiac arrhythmias, etc. Symptoms appear between 18 and 30 years old. Congenital phenotype (>1000 CTG repeats): associated with muscle hypotonia, respiratory distress, intellectual disability, etc. The age of appearance for symptoms ranges from 0 to 18 years old. INTENDED USED Adellgene® Myotonic Dystrophy Confirmatory is a semi-automated in vitro diagnostic kit designed for use in clinical laboratories which quantitatively determines the number of repetitions of CTG (cytosine-thymine-guanine) of 3´UTR region of the DMPK gene located in chromosome 19 resulting in Myoto­nic Dystrophy Type 1 (DM1) disease. It aims to aid diagnosis associated with clinical findings in DM1 that span from mild to severe symptoms.