Broj gena
355
TAT (radni dani)
25
Metoda
MLPA, NGS uključujući analizu CNV-a, analizu ekspanzije ponavljanja i analizu mtDNA.
Uzorak
Puna krv
Opis
Neuromuskularni panel je idealan za pacijente sa mišićnim bolestima. Uključuje gene koji uzrokuju neurološke bolesti i obuhvata poremećaje kao što su metaboličke miopatije, mišićne distrofije, Charcot–Marie–Tooth, kongenitalni mijastenijski sindromi, kongenitalne miopatije, miofibrilarne miopatije, nemalinske miopatije i drugi sindromi sa hipotonomijom, miotonijom ili slabosti. Arthrogryposis je uključen radi diferencijalne dijagnoze neuromuskularnih poremećaja ranog početka. Ako postoji visoka dijagnostička sumnja na Duchenneovu mišićnu distrofiju, preporučujemo da kliničar naruči analizu delecija/duplikacija pomoću MLPA metode usmjerene na DMD gen kao dodatnu uslugu.
Geni
AARS1, ABHD5, ACAD9, ACADM, ACADVL, ACTA1, ACTG2, ADGRG6, AGL, AGRN, AHCY, AIFM1, ALDOA, ALG14, ALG2, AMPD1, ANO5, ARHGEF9, ASAH1, ASCC1, ATAD1, ATL1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, CACNA1S, CAPN3, CASK, CASQ1, CAV1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COX6A1, CPT2, CRLF1, CRPPA, CRYAB, CSRP3, CTDP1, DAG1, DCTN1, DES, DGUOK, DHCR24, DHTKD1, DMD, DMPK, DNA2, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, ENO3, ERCC5, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FBLN5, FBN2, FBXO38, FDX2, FGD4, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNC, GAA, GAN, GARS1, GBA1, GBE1, GDAP1, GFPT1, GJB1, GLDN, GLE1, GLRA1, GLRB, GMPPB, GNB4, GNE, GPHN, GYG1, GYS1, HADHA, HADHB, HINT1, HK1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPG2, IGHMBP2, INF2, ISCU, ITGA7, KARS1, KAT6B, KBTBD13, KCNA1, KCNE3, KCNJ2, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KLHL7, KY, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LGI4, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRSAM1, MAGEL2, MAMLD1, MARS1, MATR3, MED25, MEGF10, MFN2, MICU1, MOCS1, MPV17, MPZ, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NALCN, NDRG1, NEB, NTRK1, OPA1, OPA3, PAX7, PDK3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD2, PMM2, PMP22, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC1, PREPL, PRKAG2, PRPS1, PRX, PYGM, PYROXD1, QARS1, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RRM2B, RXYLT1, RYR1, SBF1, SBF2, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SIL1, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SLC6A5, SMCHD1, SMN1, SMN2, SMPD4, SPEG, SPG11, SPTBN4, SPTLC1, SPTLC2, STAC3, STIM1, SUCLA2, SUN2, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TBCK, TCAP, TFG, TGFB3, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIP4, TRPV4, TSEN2, TSFM, TTN, TWNK, TYMP, UBA1, VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS33B, VRK1, WNK1, XK, YARS1, ZC4H2