Ataxia Xpanded Panel

Forms and Documents

Test Details

AAAS, AARS, AARS2, AASS, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABHD12, ABHD5, ACAT2, ACBD6, ACD, ACO2, ACOX1, ACP5, ACTB, ADAR, ADCK3, ADCY5, ADCY6, ADD3, ADGRG1, ADSL, AFF2, AFG3L2, AGA, AGRN, AHDC1, AHI1, AIFM1, AIMP1, AIP, AIPL1, ALAD, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG6, ALK, ALS2, AMACR, AMPD2, ANG, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANOS1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APOA1, APOB, APOPT1, APP, APTX, ARFGEF2, ARG1, ARHGAP31, ARID1B, ARL13B, ARL6, ARL6IP1, ARNT2, ARSA, ARSI, ARX, ASL, ASNS, ASPM, ASS1, ATCAY, ATG5, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP5A1, ATP5E, ATP6AP2, ATP7A, ATP7B, ATP8A2, ATPAF1, ATPAF2, ATRX, AUH, B3GALNT2, B3GALT6, B4GALNT1, B4GAT1, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCOR, BCS1L, BICD2, BRAT1, BSCL2, BTD, BTK, C10orf2, C12ORF65, C19orf12, C5orf42, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNB4, CACNG2, CAMTA1, CAPN1, CARS2, CASK, CAV1, CBS, CC2D1A, CC2D2A, CCDC88C, CCT5, CDH15, CDK5RAP2, CDK6, CDKL5, CECR1, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHAMP1, CHAT, CHCHD10, CHD2, CHD7, CHL1, CHMP1A, CHMP2B, CISD2, CIZ1, CKAP2L, CLCN2, CLIC2, CLIP1, CLK2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNTN4, CNTNAP1, COA3, COASY, COG4, COG5, COL18A1, COL4A1, COL4A2, COL6A3, COQ2, COX10, COX14, COX15, COX20, COX6B1, CP, CPS1, CPT1A, CPT1C, CRADD, CRB1, CRBN, CREBBP, CRX, CSF1R, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTLA4, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYC1, CYP27A1, CYP2U1, CYP7B1, DAG1, DAO, DARS, DARS2, DBT, DCAF17, DCTN1, DCX, DDC, DDHD1, DDHD2, DDX3X, DEAF1, DHCR24, DHFR, DKC1, DLAT, DLD, DLGAP4, DLL4, DMXL2, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNM2, DNMT1, DOCK6, DOCK8, DPM1, DPYD, DPYS, DRD2, DUSP6, DYNC1H1, DYRK1A, DYSF, EARS2, EBF3, ECHS1, EDC3, EDN3, EDNRB, EEF2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, EML1, EMX2, ENPP1, ENTPD1, EOGT, EPB41L1, EPB41L4A, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ETHE1, EXOSC3, EXOSC8, EXT2, EZH2, FA2H, FAAH, FAM134B, FAR1, FARS2, FASTKD2, FBXL4, FBXO31, FBXO7, FEZF1, FGD4, FGF14, FGF17, FGF8, FGFR1, FIG4, FKRP, FKTN, FLNA, FLRT1, FLRT3, FLVCR1, FMN2, FOXG1, FOXP1, FOXP3, FOXRED1, FTL, FUCA1 , FUS, FUZ, FXN, GABRA1, GABRB2, GABRD, GABRG2, GAD1, GALC, GAMT, GAN, GATAD2B, GBA, GBA2, GBE1, GCDH, GCH1, GDF3, GDF6, GEMIN4, GEMIN5, GFAP, GFM1, GIGYF2, GJA1, GJB1, GJB2, GJB6, GJC2, GLB1, GLI2, GLRA1, GLRX5, GLYCTK, GMPPA, GMPPB, GNAL, GNAO1, GNAQ, GNRH1, GNRHR, GOSR2, GPI, GPR101, GPR88, GRID2, GRIK2, GRIN1, GRIN2B, GRM1, GRN, GSS, GUCY2D, HACE1, HARS, HARS2, HCFC1, HCN1, HDAC8, HEPACAM, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HIC1, HK1, HLA-DPB1, HMBS, HMGCS2, HNRNPA1, HNRNPA2B1, HPCA, HPGD, HPRT1, HS6ST1, HSD17B10, HSD17B4, HSPD1, HSPG2, HTRA2, IBA57, IDH2, IDUA, IFIH1, IFRD1, IFT140, IFT172, IFT27, IL10, IL12A, IL17RD, IL23R, IL6, IMPDH1, INPP5E, IQCB1, IQSEC2, ISCA2, ISPD, ITM2B, ITPR1, JAM3, KANK1, KAT6A, KATNB1, KCNA1, KCNA2, KCNAB2, KCNB1, KCNB2, KCNC3, KCND3, KCNJ10, KCNJ13, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA0586, KIAA2022, KIF1A, KIF1C, KIF2A, KIF5A, KIF5C, KIRREL3, KISS1, KISS1R, KLC2, KLC4, L1CAM, L2HGDH, LAMA1, LAMB2, LARS, LARS2, LCA5, LDLR, LHX4, LIAS, LIPT1, LMBRD1, LMNB1, LMNB2, LRAT, LRPPRC, LRRK2, LRSAM1, LYRM7, LZTFL1, MAG, MAN1B1, MAN2B1, MAPT, MARS, MARS2, MAT1A, MATR3, MBD5, MCOLN1, MCPH1, MECP2, MED13L, MED17, MED23, MED25, MEF2C, MEFV, MEOX1, METTL23, MFN2, MFSD2A, MFSD8, MICU1, MKKS, MKS1, MLC1, MLLT3, MMADHC, MOCS1, MOCS2, MPDU1, MPV17, MPZ, MR1, MRE11A, MRPS22, MTFMT, MTO1, MTPAP, MTTP, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NADK2, NAGA, NAGLU, NAGPA, NALCN, 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, NECAP1, NEFH, NEFL, NFU1, NGLY1, NHP2, NIPA1, NKAIN2, NKX2-1, NKX6-2, NME1, NMNAT1, NOD2, NOP10, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NSD1, NSMF, NSUN2, NT5C2, NTNG1, NUBPL, NUP62, OCLN, OPA1, OPA3, OPHN1, OPTN, OTC, OTUD4, OTX2, PACRG, PAFAH1B1, PAFAH1B3, PAH, PAK3, PANK2, PARK2, PARK7, PARN, PAX3, PAX6, PCCA, PCCB, PCDH19, PCLO, PCNA, PDC, PDE10A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PDP1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGAP1, PGK1, PGM3, PHC1, PHGDH, PHOX2B, PHYH, PIGA, PIGN, PIGQ, PIK3R5, PINK1, PLA2G6, PLCB1, PLEKHG2, PLEKHG4, PLP1, PLXND1, PMM2, PMP22, PMPCA, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPT1, POLA1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, POU1F1, PPARGC1A, PPM1K, PPT1, PQBP1, PRF1, PRICKLE1, PRKCG, PRKRA, PRNP, PROK2, PROKR2, PROP1, PRPH, PRPS1, PRRT2, PRSS12, PRTN3, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTCH2, PTCHD1, PTPN22, PTRH2, PTS, PURA, QARS, QDPR, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD50, RARS2, RASA1, RAX, RBFOX1, RBM10, RBPJ, RD3, RDH12, REEP1, REEP2, RELN, REV3L, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF168, RNF170, RNF216, ROGDI, RPE65, RPGRIP1, RPGRIP1L, RPIA, RRM2B, RTEL1, RTN2, RTN4IP1, RTTN, SACS, SAMD9L, SAMHD1, SASS6, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEMA3A, SEPSECS, SERAC1, SETD2, SETX, SGCE, SHANK3, SHH, SIGMAR1, SIK1, SIL1, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5 , SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A4, SLC25A46, SLC2A1, SLC2A3, SLC30A10, SLC33A1, SLC39A14, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC9A1, SLC9A6, SMAD4, SMARCA4, SMARCB1, SMC1A, SMPD1, SNAP25, SNCA, SNX14, SOD1, SORL1, SOST, SOX10, SOX2, SOX3, SOX6, SPAST, SPATA5, SPATA7, SPG11, SPG20, SPG21, SPG7, SPR, SPRY4, SPTAN1, SPTBN2, SQSTM1, SRD5A3, ST3GAL3, ST3GAL5, STAMBP, STAT4, STIL, STK11, STRADA, STUB1, STX11, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYNGAP1, SYNJ1, SYT14, SYT2, TAC3, TACO1, TACR3, TAF1, TAF2, TARDBP, TBC1D20, TBC1D24, TBK1, TBX18, TCF4, TCN2, TCTN1, TCTN2, TDP1, TDP2, TEAD1, TECPR2, TECR, TERT, TFG, TGM6, TH, THAP1, THG1L, TIMM8A, TINF2, TK2, TLR4, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TOP2A, TOR1A, TOR1AIP1, TPI1, TPK1, TPM2, TPM3, TPP1, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM32, TRNT1, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTF1, TTPA, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TULP1, TUSC3, TYMP, TYROBP, UBA5, UBE3A, UBQLN2, UBTF, UCHL1, UNC13A, UNC13D, UNC80, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, USB1, USP8, VAMP1, VAPB, VARS2, VCP, VLDLR, VPS13A, VPS13B, VPS16, VPS35, VPS37A, VPS53, VRK1, VWA3B, VWF, WDPCP, WDR11, WDR45, WDR48, WDR62, WDR73, WDR81, WFS1, WNK1, WRAP53, WWOX, XPA, XPR1, XRCC1, XRCC4, YWHAE, ZC3H14, ZC4H2, ZFR, ZFYVE26, ZFYVE27, ZNF335, ZNF423, ZNF592
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with ataxia
  • Next-Gen Sequencing

Ordering

J762
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81286x1, 81185x1, 81403x1, 81404x1, 81405x2, 81406x4, 81407x1, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bird T. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2016 Nov 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/boo
  2. Finsterer et al. (2009) Can J Neurol Sci 36 (4):409-28 (PMID: 19650351)
  3. Jayadev et al. (2013) Genet. Med. 15 (9):673-83 (PMID: 23538602)
  4. Sandford et al. (2014) Genes (Basel) 5 (3):586-603 (PMID: 25055202)
  5. Durr et al. (2010) Lancet Neurol 9 (9):885-94 (PMID: 20723845)
  6. Embiruçu et al. (2009) Arq Neuropsiquiatr 67 (4):1143-56 (PMID: 20069237)
  7. Kalia et al. (2016) Genet. Med.: (PMID: 27854360)
  8. Nemeth et al. (2013) Brain 136 (Pt 10):3106-18 (PMID: 24030952)
  9. Sastry et al. Exome Sequencing Provides a Broad Evaluation and High Diagnostic Rate for Ataxia-Related Disorders [abstract and platform presentation] To be presented at the 2017 ACMG Annual Clinical Genetics Meeting, March 21-25, 2016 Phoenix, AZ
  10. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)