Genetic Test Details

Congenital Myasthenic Syndromes Panel

Test Information

Title
Congenital Myasthenic Syndromes Panel
Lab
Lab
Category
Neurogenetics
Sub Category
Neuromuscular Disease
Gene/Platform/Region List
AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, RYR1, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1
Test type
Gene Panel
Samples Accepted
Blood , DNA
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing

Last Updated: June 23, 2025