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Nervous system

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    Pseudohypertrophy muscular dystrophy (DMD), also known as Duchenne Muscular Dystrophy (DMD) (OMIM 310200) is the most common kind of progressive muscular dystrophy. The prevalence rate of the disease is 3.3/10 ten thousand, counted for 20-30/10 ten thousand of born baby boys, and inheritance patterns of DMD is X -chain recessive, with common for boy, pathogenic gene carriers in women. DMD is usually caused by the mutations of DMD dystrophin gene, and about one-third of the cases are sporadic without family history. Mygenostics is aimed to detect and analysis multiple subtypes of DMD 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 DMD patients.

    The whole gene was examined for 2.2Mb, including deletion of repeat, and point mutation (exon+intron)