Congenital Muscle Diseases Panel

Test Information

Titre
Congenital Muscle Diseases Panel
Catégorie
Neurogenetics
Test Name (CMS Title)
Neuromuscular Disease
Gene/Platform/Region List
ACTA1, ACTN2, ACVR1, ADSS1, AGRN, ALG14, ALG2, ASCC3, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1H, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLN3, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB4, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, ECEL1, EPG5, FHL1, FKBP14, FKRP, FKTN, FLNC, FXR1, GAA, GATM, GFPT1, GIPC1, GMPPB, GOLGA2, GOSR2, HACD1, HNRNPA1, HNRNPA2B1, HRAS, IGHMBP2, INPP5K, ISCU, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LMNA, LMOD3, LRP12, LRP4, MAP3K20, MB, MCOLN1, MEGF10, MICU1, MPDU1, MSTN, MSTO1, MTM1, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, PABPN1, PAX7, PIEZO2, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PURA, PYROXD1, RAPSN, RILPL1, RPH3A, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC25A1, SLC25A4, SLC5A7, SNAP25, SPEG, SPTBN4, STAC3, STIM1, SVIL, SYNE1, SYT2, TCAP, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TTN, UNC13A, UNC45B, VAMP1, VCP, VMA21
Test type
Samples Accepted
Blood, DNA
Indications
Carrier Cascade Testing, Diagnostics
Test Methodology
Sequencing
Disease/Condition
Congenital Muscle Diseases, Congenital myasthenic syndrome (CMS), congenital myopathy (CM), and congenital muscular dystrophy (CMD), congenital myotonic dystrophy.

Dernière Mise à Jour: 09 décembre 2025