Congenital Myasthenic Syndromes Panel

Test Information

Title
Congenital Myasthenic Syndromes Panel
Lab
Category
Neurogenetics
Test Name (CMS Title)
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
Samples Accepted
Blood, DNA
Indications
Carrier Cascade Testing, Diagnosis
Test Methodology
Sequencing

Last Updated: November 14, 2025

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