Myasthenia/Myasthenic Syndromes (Congenital)

Forms and Documents

Test Details

AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LRP4, MUSK, RAPSN, SCN4A, SYT2
  • 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.

Ordering

945
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.