Broj gena
280
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Neuropatije panel uključuje gene povezane sa svim tipovima Charcot-Marie-Tooth bolesti i naslijeđenim neuropatijama malih vlakana. Varijante u genima AR, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, DMPK, FMR1, FXN, NOP56, PPP2R2B i PRNP ispituju se samo kao sekvencijske varijante. Ako postoji klinička sumnja na poremećaj ekspanzije ponavljanja povezan sa jednim ili više gore navedenih gena, preporučuje se Genome verzija ovog panela. Napominjemo da najčešće varijante povezane sa bolešću u genu SMN1 nisu obuhvaćene ovom NGS analizom.
Geni
AARS1, ABCA1, ABCC9, ABHD12, ACTC1, ACTN2, AGTPBP1, AGXT, AIFM1, ALDH3A2, ALS2, AP1S1, APOA1, APTX, AR, ARL6IP1, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, B4GALNT1, BAG3, BCKDHB, BICD2, BRAF, BSCL2, C19orf12, CASQ2, CAV3, CD59, CHCHD10, CNTNAP1, COA7, COQ8A, COX6A1, CPOX, CRYAB, CSRP3, CTDP1, CYP27A1, DARS2, DCTN1, DEGS1, DES, DGUOK, DHH, DHTKD1, DMD, DMPK, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DSC2, DSG2, DSP, DST, DSTYK, DYNC1H1, EGR2, ELP1, EMD, ERBB3, ERCC6, ERCC8, ETFDH, EXOSC3, EXOSC8, FA2H, FAH, FBLN5, FBXO38, FGD4, FGF14, FIG4, FKTN, FLVCR1, FMR1, FXN, GAA, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJC2, GLA, GLE1, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HRAS, HSPB1, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, ITPR1, JAG1, JPH2, JUP, KARS1, KCNA1, KCNA2, KCNC3, KIF1A, KIF1B, KIF5A, KRAS, L1CAM, LAMA4, LAMP2, LAS1L, LDB3, LITAF, LMNA, LRP12, LRSAM1, LYST, MAP1B, MAP2K1, MAP2K2, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MRE11, MT-ATP6, MT-RNR1, MT-TL1, MTMR2, MTRFR, MTTP, MYBPC3, MYH14, MYH6, MYH7, MYL2, MYL3, MYPN, NAGA, NAGLU, NDRG1, NEFH, NEFL, NEXN, NGF, NIPA1, NOP56, NRAS, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PKP2, PLEKHG5, PLN, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PPP2R2B, PRDM12, PRKAG2, PRKCG, PRNP, PRPS1, PRX, PTEN, PTPN11, PTRH2, RAB7A, RAF1, RBM20, REEP1, RETREG1, RIT1, RYR2, SACS, SBF1, SBF2, SCARB2, SCN11A, SCN5A, SCN9A, SCP2, SCYL1, SELENOI, SEPTIN9, SETX, SGCD, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC1A3, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SNRPN, SORD, SOS1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TAFAZZIN, TCAP, TDP1, TFG, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRIP4, TRPV4, TTBK2, TTN, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, VAPB, VCL, VCP, VPS13A, VRK1, VWA1, WARS1, WASHC5, WNK1, XK, XPA, YARS1, ZFYVE26