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Neuromuscular Diseases Panel

Test Information

Titre
Neuromuscular Diseases Panel
Catégorie
Neurogenetics
Test Name (CMS Title)
Neuromuscular Disease
Gene/Platform/Region List
AARS1, ABCA1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADVL, ACTA1, ACTN2, ACVR1, ADSS1, AGL, AGRN, AGTPBP1, AIFM1, ALDOA, ALG14, ALG2, ANO5, APTX, ARHGEF10, ARSA, ASAH1, ASCC1, ASCC3, ATL1, ATL3, ATM, ATP1A1, ATP1A2, ATP2A1, ATP5F1D, ATP7A, B3GALNT2, B4GALNT1, B4GAT1, BAG3, BCKDHB, BICD2, BIN1, BSCL2, BVES, C1QBP, CACNA1A, CACNA1H, CACNA1S, CADM3, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CCT5, CD59, CFAP276, CFL2, CHAT, CHCHD10, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CLN3, CLTCL1, CNTN1, CNTNAP1, COA7, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX6A1, CPOX, CPT1A, CPT2, CRPPA, CRYAB, CTDP1, CYP27A1, DAG1, DARS2, DCAF8, DCTN1, DEGS1, DES, DGAT2, DGUOK, DHTKD1, DMD, DNAJB2, DNAJB4, DNAJB6, DNM2, DNMT1, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, ENO3, EPG5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAH, FBLN5, FBXO38, FDX2, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLNC, FLVCR1, FXN, FXR1, GAA, GALC, GAN, GARS1, GATM, GBA2, GBE1, GBF1, GDAP1, GFPT1, GGPS1, GIPC1, GJB1, GJB3, GJC2, GLA, GMPPB, GNB4, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, INPP5K, ISCU, ITGA7, ITPR3, JAG1, JAG2, KARS1, KBTBD13, KCNA1, KCNA2, KCNE3, KCNJ2, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRIF1, LRP12, LRP4, LRSAM1, LYST, MAP3K20, MARS1, MB, MCM3AP, MCOLN1, MEGF10, MFN2, MGME1, MICU1, MLIP, MMACHC, MME, MORC2, MPDU1, MPV17, MPZ, MSTN, MSTO1, MT-ATP6, MTM1, MTMR2, MTRFR, MT-RNR1, MT-TL1, MTTP, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NAGA, NAGLU, NARS1, NDRG1, NEB, NEFH, NEFL, NGF, NHERF1, NMNAT2, NTRK1, OPA1, OPA3, ORAI1, PABPN1, PAX7, PCK2, PDHA1, PDK3, PDSS1, PDSS2, PEX10, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHYH, PIEZO2, PLEC, PLEKHG5, PMM2, PMP2, PMP22, PNKP, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PPOX, PRDM12, PREPL, PRKAG2, PRNP, PRPS1, PRX, PTPN11, PURA, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RFC1, RILPL1, RNASEH1, RPH3A, RRM2B, RXYLT1, RYR1, RYR3, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SELENON, SEPTIN9, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SLC12A3, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A19, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMCHD1, SMN1, SNAP25, SORD, SOX10, SPAST, SPEG, SPG11, SPTBN4, SPTLC1, SPTLC2, STAC3, STIM1, SUCLA2, SURF1, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TCAP, TFG, TK2, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIM54, TRIM63, TRIP4, TRMT5, TRPA1, TRPV4, TSFM, TTN, TTPA, TTR, TUBB3, TYMP, UBA1, UNC13A, UNC45B, VAMP1, VAPB, VCP, VMA21, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, YARS2, ZFHX2, ZFYVE26
Test type
Samples Accepted
Blood, DNA
Indications
Carrier Cascade Testing, Diagnostics
Test Methodology
Sequencing
Disease/Condition
Neuromuscular diseases

Dernière Mise à Jour: 04 juillet 2025