Congenital Myasthenic Syndromes Panel
Test Information
- Titre
-
Congenital Myasthenic Syndromes Panel
- Catégorie
- 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, Diagnostics
- Test Methodology
- Sequencing
Dernière Mise à Jour: 09 décembre 2025