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Nervous system

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    Myotonic dystrophy type 1 is a kind of autosomal dominant genetic disease of activity involvement, caused by genetic defects in chromosome 19 q13.2-19 q13.3 with three nucleotides (CTG) repeat sequence amplification, and the expansion of trinucleotide repeat formed the basis of diagnosis. The genetic penetrance of Myotonic dystrophy is 100%. The incidence of disease in global prevalence is 3-5/10 ten thousand, approximately 1/8000 live baby, and is the most common form of muscular dystrophy in adults with no obvious geographic or racial differences. Mygenostics is aimed to detect and analysis multiple subtypes of Myotonic dystrophy by hand in hand with clinical experts, combined with a new generation of high-throughput sequencing technology and bioinformatics analysis, to provide reliable basis for early diagnosis of Myotonic dystrophy disease patients.

      DM1 gene detection, detection including deletion, and dynamic mutation, fragment analysis.