Broj gena
280
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Neuropatije panel Genome uključuje gene povezane sa svim tipovima Charcot-Marie-Tooth bolesti i naslijeđenim neuropatijama malih vlakana. Ovaj panel uključuje skrining ekspanzije ponavljanja gena AR, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, DMPK, FMR1, FXN, NOP56, PPP2R2B, PRNP, kao i CNV analizu gena SMN1.
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