Ataxia Xpanded^® Panel

Genes

AAAS, AARS, AARS2, AASS, ABCA1, ABCA5, ABCA7, ABCB7, ABCC6, ABCC8, ABCD1, ABHD12, ABHD5, ACAT2, ACBD5, ACBD6, ACD, ACO2, ACOX1, ACOX2, ACP2, ACP5, ACTA1, ACTB, ADAR, ADCK3, ADCY5, ADCY6, ADD3, ADGRG1, ADK, ADPRHL2, ADRA2B, ADSL, AFF2, AFG3L2, AGA, AGRN, AGTPBP1, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AIP, AIPL1, AKT1, ALAD, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALG11, ALG6, ALK, ALS2, AMACR, AMPD2, ANG, ANGPTL6, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANOS1, ANXA11, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOA1BP, APOB, APOPT1, APP, APTX, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARID1B, ARL13B, ARL6, ARL6IP1, ARMC9, ARNT2, ARSA, ARSI, ARV1, ARX, ASL, ASNS, ASPA, ASPM, ASS1, ATAD3A, ATAD3B, ATCAY, ATF4, ATG5, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP5A1, ATP5E, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATP7B, ATP8A2, ATPAF1, ATPAF2, ATRX, AUH, B3GALNT2, B3GALT6, B4GALNT1, B4GAT1, B9D1, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCL11B, BCOR, BCS1L, BICD2, BMP15, BOLA3, BRAT1, BSCL2, BTD, C10orf2, C11orf73, C12orf65, C19orf12, C19orf70, C21orf2, C5orf42, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNB4, CACNG2, CAMTA1, CAMTA2, CAPN1, CARS2, CASK, CASR, CAV1, CBS, CC2D1A, CC2D2A, CCDC141, CCDC82, CCDC88C, CCNF, CCR1, CCT5, CDC42, CDH15, CDH23, CDK5RAP2, CDK6, CDKL5, CECR1, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CEP78, CFL2, CHAMP1, CHAT, CHCHD10, CHD2, CHD7, CHL1, CHMP1A, CHMP2B, CHN1, CHRNA4, CHRNA7, CIB2, CISD2, CIT, CIZ1, CKAP2L, CLCN2, CLIC2, CLIP1, CLIP2, CLK2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNTN4, CNTNAP1, COA3, COA5, COA7, COASY, COG2, COG4, COG5, COL12A1, COL13A1, COL18A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLEC11, COQ2, COQ5, COQ7, COQ9, COX10, COX14, COX15, COX20, COX6B1, CP, CPS1, CPT1A, CPT1C, CRADD, CRAT, CRB1, CRBN, CREBBP, CRLF1, CRX, CSF1R, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTLA4, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYB5R3, CYC1, CYP26C1, CYP27A1, CYP2U1, CYP7B1, DAB1, DAG1, DAO, DARS, DARS2, DBT, DCAF17, DCC, DCTN1, DCX, DDB2, DDC, DDHD1, DDHD2, DDX3X, DEAF1, DFNB31, DHCR24, DHDDS, DHFR, DHH, DKC1, DKK1, DLAT, DLD, DLG3, DLGAP4, DLL4, DMXL2, DNA2, DNAJC12, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNAL4, DNASE1L3, DNM1, DNM1L, DNM2, DNMT1, DOCK3, DOCK6, DOCK8, DPM1, DPYD, DPYS, DRD2, DSTYK, DUSP6, DYNC1H1, DYRK1A, DYSF, EARS2, EBF3, ECHS1, ECM1, EDC3, EDN3, EDNRB, EED, EEF2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4G1, ELF2, ELN, ELOVL4, ELOVL5, ELP2, EMC1, EML1, EMX2, ENG, ENPP1, ENTPD1, EOGT, EP300, EPB41L1, EPB41L4A, EPCAM, EPHA4, EPT1, ERAP1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ERMARD, ETHE1, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, EZH2, FA2H, FAAH, FAN1, FAR1, FARS2, FAS, FASTKD2, FAT1, FAT2, FBXL4, FBXO31, FBXO7, FDXR, FEZF1, FGD4, FGF12, FGF14, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FITM2, FKRP, FKTN, FLNA, FLRT1, FLRT3, FLVCR1, FMN2, FOXG1, FOXI1, FOXP1, FOXP3, FOXRED1, FRMD4A, FRRS1L, FSHR, FTL, FUCA1, FUS, FUZ, FXN, GABBR2, GABRA1, GABRA3, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALT, GAMT, GAN, GATAD2B, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GDF3, GDF6, GEMIN4, GEMIN5, GFAP, GFM1, GFM2, GIGYF2, GJA1, GJB1, GJB2, GJB6, GJC2, GLB1, GLE1, GLI2, GLRA1, GLRB, GLRX5, GLYCTK, GM2A, GMPPA, GMPPB, GNA11, GNAL, GNAO1, GNAQ, GNAS, GNB1, GNRH1, GNRHR, GOSR2, GPHN, GPI, GPR101, GPR88, GPR98, GRID2, GRIK2, GRIN1, GRIN2B, GRM1, GRN, GSS, GTF2I, GTF2IRD1, GUCY1A3, GUCY2D, GUF1, HACE1, HARS, HARS2, HCFC1, HCN1, HDAC8, HEPACAM, HERC1, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HIC1, HK1, HLCS, HMBS, HMGCS2, HNRNPA1, HNRNPA2B1, HNRNPH2, HPCA, HPDL, HPGD, HPRT1, HS6ST1, HSD17B10, HSD17B4, HSPD1, HSPG2, HTRA1, HTRA2, HYLS1, IARS, IBA57, IDH2, IDUA, IFIH1, IFRD1, IFT140, IFT172, IFT27, IKBKAP, IL10, IL12A, IL17RD, IL23R, IL6, IMPDH1, INPP5E, INPP5K, INS, INVS, IQCB1, IQSEC2, ISCA2, ISPD, ITM2B, ITPR1, JAM3, KANK1, KAT6A, KATNB1, KCNA1, KCNA2, KCNAB2, KCNB1, KCNB2, KCNC1, KCNC3, KCND3, KCNJ10, KCNJ11, KCNJ13, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA0556, KIAA0586, KIAA0753, KIAA1033, KIAA2022 (NEXMIF), KIDINS220, KIF11, KIF1A, KIF1C, KIF26B, KIF2A, KIF5A, KIF5C, KIF7, KIRREL3, KISS1, KISS1R, KIT, KLC2, KLC4, KLHL40, KLHL41, KLLN, KLRC4, KMT2A (MLL), KMT2B, KRAS, KY, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LAMB2, LARGE, LARS, LARS2, LCA5, LDLR, LETM1, LHX4, LIAS, LIMK1, LIMS2, LIPT1, LMBRD1, LMNB1, LMNB2, LMOD3, LRAT, LRPPRC, LRRK2, LRSAM1, LYRM7, LYST, LZTFL1, MAFB, MAG, MAN1B1, MAN2B1, MAPT, MARS, MARS2, MAST1, MAT1A, MATR3, MBD5, MCCC1, MCCC2, MCOLN1, MCPH1, MECP2, MECR, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEFV, MEOX1, METTL23, MFF, MFN2, MFSD2A, MFSD8, MGME1, MICU1, MICU2, MKKS, MKS1, MLC1, MLH3, MLLT3, MMADHC, MME, MOCS1, MOCS2, MPDU1, MPP7, MPV17, MPZ, MR1, MRE11A, MRPS22, MSTO1, MTFMT, MTO1, MTOR, MTPAP, MTTP, MUT, MVK, MYCN, MYD88, MYH2, MYO5A, MYO7A, MYO9A, MYT1L, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGPA, NALCN, NANS, NARS2, NAT8L, NDE1, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NEFH, NEFL, NEK1, NELFA, NEU1, NF1, NFU1, NGLY1, NHP2, NIPA1, NKAIN2, NKX2-1, NKX6-2, NME1, NMNAT1, NOD2, NOL3, NONO, NOP10, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR4A2, NR5A1, NRAS, NRD1, NSD1, NSMF, NSUN2, NT5C2, NTN1, NTNG1, NUBPL, NUP107, NUP62, NUS1, OBFC1, OCLN, OFD1, OGDH, OPA1, OPA3, OPHN1, OPTN, OSGEP, OTC, OTUD4, OTUD6B, OTX2, PACRG, PAFAH1B1, PAFAH1B3, PAH, PAK3, PANK2, PARK2, PARK7, PARN, PAX3, PAX6, PCCA, PCCB, PCDH12, PCDH15, PCDH19, PCLO, PCNA, PCYT1A, PDC, PDE10A, PDE2A, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PDP1, PDSS2, PDX1, PDYN, PDZD7, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGAP1, PGK1, PGM3, PHC1, PHGDH, PHKA1, PHOX2B, PHYH, PIBF1, PIEZO2, PIGA, PIGG, PIGN, PIGQ, PIK3CA, PIK3R5, PINK1, PLA2G6, PLAA, PLCB1, PLD3, PLEKHG2, PLEKHG4, PLP1, PLXND1, PMM2, PMP22, PMPCA, PMS1, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPT1, PODXL, POLA1, POLG, POLG2, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, POU1F1, POU4F1, PPARGC1A, PPM1K, PPP1R15B, PPT1, PQBP1, PRDM8, PRF1, PRICKLE1, PRKCG, PRKRA, PRNP, PROK2, PROKR2, PROP1, PRPH, PRPS1, PRRT2, PRSS12, PRTN3, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSMC3IP, PTCH1, PTCH2, PTCHD1, PTPN22, PTRH2, PTS, PUM1, PURA, PYCR2, QARS, QDPR, QKI, RAB11B, RAB12, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD50, RAD51, RARS, RARS2, RASA1, RAX, RBFOX1, RBM10, RBPJ, RD3, RDH12, REEP1, REEP2, RELN, REPS1, RERE, RETREG1, REV3L, RFC1, RFC2, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF168, RNF170, RNF216, ROGDI, RORA, RPE65, RPGRIP1, RPGRIP1L, RPIA, RPS6KA3, RRM2B, RSPH4A, RTEL1, RTN2, RTN4IP1, RTTN, SACS, SAMD9, SAMD9L, SAMHD1, SARS2, SASS6, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHB, SDHC, SDHD, SEC23B, SEMA3A, SEPSECS, SERAC1, SETBP1, SETD2, SETX, SFXN4, SGCE, SHANK3, SHH, SIGMAR1, SIK1, SIL1, SIX3, SIX6, SKI, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A32, SLC25A4, SLC25A46, SLC26A4, SLC2A1, SLC2A3, SLC30A10, SLC30A9, SLC33A1, SLC39A14, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC9A1, SLC9A6, SMAD4, SMARCA4, SMARCB1, SMC1A, SMPD1, SNAI2, SNAP25, SNAP29, SNCA, SNCAIP, SNX14, SOD1, SORL1, SOST, SOX10, SOX2, SOX3, SOX5, SOX6, SPAST, SPATA5, SPATA7, SPG11, SPG20, SPG21, SPG7, SPIDR, SPR, SPRY4, SPTAN1, SPTBN2, SQSTM1, SRD5A3, ST3GAL3, ST3GAL5, STAMBP, STAT3, STAT4, STIL, STRADA, STUB1, STX11, STX16, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SUZ12, SYNE1, SYNGAP1, SYNJ1, SYT14, SYT2, TAC3, TACO1, TACR3, TAF1, TAF15, TAF2, TANGO2, TARDBP, TAT, TBC1D20, TBC1D24, TBCD, TBCE, TBK1, TBL2, TBX18, TCF4, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TEAD1, TECPR2, TECR, TELO2, TENM1, TERT, TFG, TGFB1, TGFBR2, TGFBR3, TGM6, TH, THAP1, THG1L, TIMM8A, TIMMDC1, TINF2, TK2, TLR4, TMEM126B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TOE1, TOMM40, TOP2A, TOR1A, TOR1AIP1, TP53RK, TPI1, TPK1, TPM2, TPM3, TPP1, TPP2, TPRKB, TRAF3IP1, TRAPPC11, TRAPPC12, TRAPPC9, TREM2, TREX1, TRIM32, TRMT5, TRNT1, TRPC3, TRPV4, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTF1, TTPA, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUFM, TULP1, TUSC3, TWIST1, TXN2, TYMP, TYROBP, UBA5, UBAC2, UBE3A, UBQLN2, UBR4, UBTF, UCHL1, UFC1, UNC13A, UNC13D, UNC80, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, USB1, USH1C, USH1G, USH2A, USP8, VAC14, VAMP1, VAPB, VARS2, VCP, VLDLR, VPS11, VPS13A, VPS13B, VPS13C, VPS16, VPS35, VPS37A, VPS53, VRK1, VWA3B, WARS2, WDPCP, WDR11, WDR19, WDR45, WDR45B, WDR48, WDR62, WDR73, WDR81, WFS1, WHSC1, WNK1, WRAP53, WWOX, XPA, XPC, XPR1, XRCC1, XRCC4, YME1L1, YWHAE, ZBTB18, ZBTB47, ZC3H14, ZC4H2, ZFR, ZFYVE26, ZFYVE27, ZNF335, ZNF423, ZNF592

Conditions

• Amyotrophic lateral sclerosis (ALS)
• Ataxia-telangiectasia
• Ataxia with oculomotor apraxia
• Cerebellar atrophy
• Cerebellar stroke
• Cerebral Palsy
• Cerebrotendinous xanthomatosis (CTX)
• Chorea
• Congenital Disorder of Glycosylation
• Dystonia
• Epileptic Encephalopathy
• Episodic Ataxia
• Gangliosidosis
• Hereditary Ataxia
• Hypogonadotropic Hypogonadism (HH)
• Joubert Syndrome
• Leukodystrophy
• Neurodegeneration with Brain Iron Accumulation (NBIA)
• Neuronal Ceroid Lipofuscinoses (NCL)
• Neuropathy
• Niemann-Pick Disease
• Parkinson Disease
• Peroxisomal Biogenesis Disorders
• Pontocerebellar Hypoplasia (PCH)
• Primary Familial Brain Calcification (PFBC)
• Refsum Disease
• Senior-Loken Syndrome
• Spastic paraplegia
• Spinocerebellar Ataxia
• Tremors
• Usher Syndrome

Lab Method

• Next-Gen Sequencing