Myasthenia/Myasthenic Syndromes (Congenital)

Forms and Documents

Test Details

AGRN, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, MUSK, RAPSN, SCN4A
  • Molecular confirmation of a clinical diagnosis.
  • To assist with decisions regarding treatment and management of individuals with congenital myasthenia.
  • Testing of at-risk relatives for specific known pathogenic variant(s) previously identified in an affected family
  • member.
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

945
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81479x9
No
No
* For price inquiries please email zebras@genedx.com

References

  1. Huze et al., (2009) American Journal of Genetics 85 (2): 155-167 (PMID: 19631309)
  2. Nicole et al., (2014) Brain: A Journal of Neurology 137: 2429-2443 (PMID: 24951643)
  3. Cossins et al., (2013) Brain: A Journal of Neurology 136: 944-956 (PMID: 23404334)
  4. Monies et al., (2014) Neuromuscular Disorders 24 (4) 353-359 (PMID: 24461433)
  5. Engel et al., (2012) Neuromuscular Disorders 22 (2): 99-111 (PMID: 22104196)
  6. Abicht et al., (2012) Human Mutation 33 (10): 1474-1484 (PMID: 22678886)
  7. Abicht et al., (1999) Neurology 53 (7): 1564-1569 (PMID: 10534268)
  8. Beeson et al., (2005) Neuromuscular Disorders 15 (7): 498-512 (PMID: 15951177)
  9. Beeson et al., (2006) Science 313 (5795): 1975-1978 (PMID: 16917026)
  10. Srour et al., (2010) Neuromuscular Disorders 20:453-457 (PMID: 20610155)
  11. Finlayson et al., (2013) Practical Neurology 13 (2): 80-91 (PMID: 23468559)
  12. Engel et al., (2015) Lancet Neurology 14 (5): 461 (PMID: 25895926)
  13. Muller et al., (2004) Journal of Medical Genetics 41 (98) e104 (PMID: 15286164)
  14. Richard et al., (2003) Journal of Medical Genetics 40:e81 (PMID: 12807980)
  15. Richard et al., (2008) Neurology 71 (24) 1967-1972 (PMID: 19064877)