Congenital Myasthenic Syndrome Panel


Whole Genome Sequencing 30X

This product is only meant for customers who already purchased a Dante Genome Test

Congenital myasthenia is an inherited disorder that usually develops at or near birth or in early childhood and involves muscle weakness and fatigue. It happens when chemicals called neurotransmitters that help transmit information between nerve cells and muscles aren't released and received properly.
Mutations underlying Congenital Myasthenic Syndrome involve neuromuscular junctions (i.e. the points of contact between the nerve endings and the muscle fibers), where takes place the transmission of impulses that allow muscle contraction. Destruction of this contact compromises muscle function, resulting in weakness and slowed development of motor skills.
For those exhibiting signs and symptoms of the disease, for the purpose of excluding or confirming the diagnosis. Genetic testing is also useful for discriminating the various forms of Congenital Myasthenic Syndromes and for those with a family history of this pathology.

The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.

  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • More than 25 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Congenital Myasthenic Syndrome

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