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Nervous system

Location>Home>Nervous system>N004:Congenital myasthenia


    Genetic testing of congenital myasthenic syndromes is to use the target area capture technology and high-throughput sequencing technology, to detect and analysis the related genes of client's congenital myasthenic syndromes. And in the meantime, it can be in early screening of patients with congenital myasthenic syndromes, as well as to realize individualized medication and specificity of gene therapy to provide important basis for patients through combining with the history, clinical manifestation and information. Mygenostics is aimed to detect and analysis multiple subtypes of congenital myasthenic syndromes 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 congenital myasthenic syndromes patients.

Congenital myasthenia syndrome panel covers 10 types of congenital myasthenia syndrome
1 Congenital end plate AChED
2 Presynaptic defect CMS
3 Potassium channels muscle weakness
4 Escobar syndrome
5 Grid protein caused by lack of CMS
6 CMS- slow channel - (CMAP)
7 CMS - acetylcholine receptor defects
8 CMS- fast channel
9 Myasthenia, limb-girdle, familial
10 Congenital weakness, tubular polymerization type 1