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Nervous system

Location>Home>Nervous system>N020:Neurofibromatosis


      Neurofibromatosis is an autosomal dominant genetic disease, caused by genetic defects resulting in abnormal development of the neural crest cells to damage the multi-system. According to the clinical manifestations and gene mapping, it can be divided into neurofibromatosis type I (NFI) and Ⅱ (NFⅡ). The main characteristics of the disease are skin nerves milk coffee spot and peripheral neurofibromatosis, explicit rate, and the gene is located on chromosome 17q11.2. the prevalence of disease is 3/10 ten thousand. Mygenostics is aimed to detect and analysis multiple subtypes of Fragile X syndrome 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 Fragile X syndrome patients.

      Nerve fibroma:NF1 and NF2 gene detection