Congenital Myasthenia Syndromes Panel

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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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