Muscle Diseases Panel

Test Information

Titre
Muscle Diseases Panel
Catégorie
Neurogenetics
Test Name (CMS Title)
Neuromuscular Disease
Gene/Platform/Region List
ABHD5, ACAD9, ACADL, ACADM, ACADVL, ACTA1, ACTN2, ACVR1, ADSS1, AGL, AGRN, ALDOA, ALG14, ALG2, ANO5, ASCC3, ATP1A2, ATP2A1, ATP5F1D, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, C1QBP, CACNA1A, CACNA1H, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CLN3, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT1A, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DNAJB4, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, ECEL1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GATM, GBE1, GFPT1, GGPS1, GIPC1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, IGHMBP2, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KCNA1, KCNE3, KCNJ2, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, LRP12, LRP4, MAP3K20, MB, MCOLN1, MEGF10, MGME1, MICU1, MLIP, MPDU1, MSTN, MSTO1, MTM1, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, ORAI1, PABPN1, PAX7, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PREPL, PRKAG2, PURA, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RILPL1, RNASEH1, RPH3A, RRM2B, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC12A3, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC5A7, SMCHD1, SNAP25, SPEG, SPTBN4, STAC3, STIM1, SUCLA2, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TCAP, TK2, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TRMT5, TSFM, TTN, TYMP, UNC13A, UNC45B, VAMP1, VCP, VMA21, YARS2
Test type
Samples Accepted
Blood, DNA
Indications
Carrier Cascade Testing, Diagnostics
Test Methodology
Sequencing
Disease/Condition
Muscle diseases

Dernière Mise à Jour: 09 décembre 2025