Broj gena
494
TAT (radni dani)
25
Metoda
NGS uključujući CNV analizu, Repeat expansion analizu, mtDNK
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 imaju preklapajuće simptome i mogu se jasno razlikovati samo molekularnim genetskim 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 ataksije-spastičnosti.
Panel za ataksiju / spastičnu paraplegiju je najbolja opcija ne samo za pacijente koji imaju nestabilan hod i nekoordinirano kretanje, već i za one koji pokazuju spastične poremećaje hoda, spastičnu slabost, hiperrefleksiju, ili bilo koju kombinaciju ovih simptoma.
Najčešći oblici nasljedne ataksije uzrokovani su mutacijama u obliku ponavljajućih sekvenci (repeat expansion), zbog čega kompletna verzija ovog panela uključuje analizu ponavljajućih sekvenci.
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, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP7B, ATP8A2, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, AUH, B4GALNT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCS1L, BEAN1, 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, NOP56, 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, PPP2R2B, 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, TBP, 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