Broj gena
483
TAT (radni dani)
25
Metoda
NGS uključujući CNV analizu
Uzorak
Puna krv
Opis
Panel za ataksiju / spastičnu paraplegiju obuhvata gene povezane s nasljednim neurološkim poremećajima koji se karakterišu ataksijom i spastičnom paraplegijom, uključujući spinocerebelarnu ataksiju (dominantnu i recesivnu), cerebelarnu ataksiju, epizodičnu ataksiju i pontocerebelarnu ataksiju.
Ovi poremećaji često dijele slične ili preklapajuće simptome, te se mogu jasno razlikovati samo molekularnim genetičkim testiranjem. Ataksije i spastične paraplegije su bile klasifikovane kao odvojene kategorije, ali novija saznanja pokazuju da ove bolesti dijele iste gene, puteve i mehanizme, zbog čega ovaj panel obuhvata oba sindroma i pokriva spektar bolesti koji se proteže od ataksije do spastičnosti.
Panel za ataksiju / spastičnu paraplegiju predstavlja najbolju opciju ne samo za pacijente koji imaju nestabilan hod i nekoordinirano kretanje, već i za one koji pokazuju spastične poremećaje hoda, spastičnu slabost, hiperrefleksiju, ili kombinaciju ovih simptoma.
Geni
AARS2, ABCB7, ABCD1, ABHD12, ABHD5, ACAD9, ACADVL, ACO2, ADAR, ADPRS, AFG3L2, AGK, AGTPBP1, AHI1, AIFM1, AIMP1, ALAS2, ALDH18A1, ALDH5A1, ALS2, AMACR, AMPD2, ANO10, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARL13B, ARL6, ARL6IP1, ARSA, ATCAY, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP7B, ATP8A2, ATRX, AUH, B4GALNT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCS1L, BICD2, BLOC1S1, BOLA3, BSCL2, BTD, C19orf12, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CARS2, CASK, CC2D2A, CCDC88C, CCT5, CEP290, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPB, CLPP, COA6, COA7, COA8, COASY, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, CP, CPLANE1, CPT1C, CSPP1, CSTB, CWF19L1, CYC1, CYP27A1, CYP2U1, CYP7B1, DAB1, DARS1, DARS2, DBT, DDHD1, DDHD2, DGUOK, DHPS, DLAT, DLD, DNA2, DNAJC19, DNAJC5, DNM1L, DNMT1, DOCK3, DSTYK, EARS2, EBF3, ECHS1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELOVL4, ELOVL5, ENTPD1, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, FA2H, FARS2, FASTKD2, FAT2, FBXL4, FDX2, FDXR, FGF14, FH, FLAD1, FLVCR1, FOXRED1, FTL, FXN, GAD1, GALC, GARS1, GBA1, GBA2, GCDH, GCH1, GFAP, GFER, GFM1, GFM2, GJB1, GJC2, GLRX5, GOSR2, GRID2, GRM1, GSS, GTPBP3, HACE1, HARS2, HEPACAM, HEXA, HEXB, HIBCH, HMGCL, HSPD1, HTRA2, IARS2, IBA57, INPP5E, IRF2BPL, ISCA2, ISCU, ITM2B, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KIF7, L1CAM, LAMA1, LAMP2, LARS2, LIAS, LIPT1, LMNB1, LRPPRC, LYRM7, LYST, MAG, MARS1, MARS2, MECR, MFF, MFN2, MGME1, MICU1, MKKS, MKS1, MLC1, MOCS1, MPC1, MPV17, MRE11, MRPL3, MRPL44, MRPS16, MRPS22, MSTO1, 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, MTFMT, MTO1, MTPAP, MTRFR, MTTP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NIPA1, NKX6-2, NPC1, NPC2, NPHP1, NR2F1, NT5C2, NUBPL, OFD1, OPA1, OPA3, OPHN1, OTC, PANK2, PARS2, PAX6, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX10, PEX2, PEX7, PGAP1, PHYH, PIK3R5, PLA2G6, PLK1, PLP1, PMPCA, PNKD, PNKP, PNPLA6, PNPT1, POLG, POLG2, POLR3A, POLR3B, PRICKLE1, PRKCG, PRRT2, PUM1, QARS1, RAB3GAP2, RAP1GDS1, RARS1, RARS2, REEP1, REEP2, RMND1, RNASEH1, RNASEH2B, RNF216, RPGRIP1L, RRM2B, RTN2, RUBCN, SACS, SAMD9L, SARS2, SCN1A, SCN2A, SCO1, SCO2, SCYL1, SDHA, SDHAF1, SELENOI, SERAC1, SETX, SFXN4, SIL1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A19, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC33A1, SLC52A2, SLC52A3, SLC9A6, SNX14, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTBN2, STUB1, SUCLA2, SUCLG1, SURF1, SYNE1, TACO1, TARS2, TBC1D24, TCTN1, TCTN2, TCTN3, TDP1, TECPR2, TFG, TGM6, TIMM8A, TK2, TMEM126B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, TPK1, TPP1, TRIM32, TRIT1, TRMT10C, TRNT1, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTPA, TTR, TUBB4A, TUFM, TWNK, TYMP, UBA5, UBAP1, UBE3A, UBTF, UCHL1, UNC80, UQCC2, UQCRB, UQCRC2, UQCRQ, USP8, VAMP1, VARS2, VCP, VLDLR, VPS37A, VRK1, WASHC5, WDR45, WDR45B, WDR81, WFS1, WWOX, YARS2, ZFYVE26, ZFYVE27, ZNF423