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Congenital Myasthenia Syndromes Panel

New York
Approved


Genes

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

Conditions

  • Myasthenia/Myasthenic Syndromes (Congenital)

Clinical Utility

  • 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.

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

945

CPT Codes*

81406x1, 81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.