NeuroRef Neuromuscular Disorders - 250 gene (afecțiuni neuromusculare)

Gene cuprinse în panel:

ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ADCY6, ADSSL1, AGK, AGL, AGRN, ALG14, ALG2, AMPD1, ANO5, ASCC1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BCS1L, BIN1, BVES, C12orf65, CACNA1S, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ9, COX10, COX15, CPT2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EARS2, ECEL1, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBN1, FBN2, FBXL4, FHL1, FKRP, FKTN, FLNC, FOXRED1, GAA, GBE1, GFER, GFM1, GFPT1, GLDN, GLE1, GMPPB, GNE, GYG1, GYS1, HADHA, HADHB, HNRNPDL, HRAS, HSPG2, IARS2, ISCU, ITGA7, KBTBD13, KCNJ18, KCNJ2, KCNJ5, KLHL40, KLHL41, KLHL9, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LIPT1, LMNA, LMOD3, LPIN1, LRP4, LRPPRC, MATR3, MEGF10, MICU1, MTFMT, MTM1, MUSK, MYBPC1, MYF6, MYH2, MYH3, MYH7, MYH8, MYOT, MYPN, NALCN, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEB, OPA1, ORAI1, PABPN1, PDHA1, PDHB, PDHX, PDSS2, PET100, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PIEZO2, PLEC, PMM2, PNPLA2, PNPLA8, PNPT1, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PUS1, PYGM, RAPSN, RBCK1, RXYLT1, RYR1, SCN4A, SCO1, SCO2, SDHA, SDHAF1, SELENON, SERAC1, SGCA, SGCB, SGCD, SGCG, SIL1, SLC19A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC5A7, SPEG, STAC3, STIM1, SUCLA2, SUCLG1, SURF1, SYNE1, SYNE2, SYT2, TACO1, TAZ, TCAP, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPK1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM63, TRMU, TRPV4, TSFM, TTC19, TTN, TWNK, TYMP, UQCRQ, VARS2, VCP, VIPAS39, VMA21, VPS33B, XK, YARS2, ZC4H2