Congenital Myasthenic Syndrome Panel

Congenital Myasthenic Syndrome Panel

  • Congenital myasthenic syndrome (CMS) is a highly variable group of diseases characterized by muscle weakness that worsens with physical exertion. Symptoms range from mild to progressive disabling weakness. The age of onset is also variable ranging from birth to early childhood. Muscles such as facial, digestive, and skeletal are the most commonly affected. This can lead to feeding difficulties and delay in the development of motor skills. Severe cases include pauses in breathing and lack of oxygen circulation in the body due to difficulty with breathing (1). CMS is due to several gene mutations that lead to changes in proteins that play a role in the function of neuromuscular junction and disrupt signaling between the ends of nerve cells and muscle cells. Treatment for symptoms such as respiratory distress and malnutrition are essential. The prevalence of CMS is estimated at 1 in 500,000 in Europe. Genetic testing is recommended as part of a collaboration between clinicians, morphologists, and neurobiologists for a complete characterization and understanding of CMS (2). CMS can be inherited in an autosomal recessive or an autosomal dominant manner; however, the autosomal recessive manner is more common.
  • Genes (22): AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, STIM1, and SYT2
    Test Code: 5001
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Congenital Myasthenic Syndrome Panel
    Requisition: Cancer Test Requisition Form
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 4 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81406×1, 81407×1, 81479×20
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Hypoventilation Syndrome Panel
    Neuromuscular Panel
  • References:
    1. https://ghr.nlm.nih.gov/condition/congenital-myasthenic-syndrome#diagnosis
    2. http://www.congenitalmyasthenicsyndrome.info/files/congenitalmyasthenicsyndromes2004.pdf

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