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Ataxia Xpanded Panel

New York
Approved


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, RETREG1, 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, HLA-DPB1, 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, KCNJ18, 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, REV3L, 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

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

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with ataxia

Lab Method

  • Next-Gen Sequencing

Test Code

J762

CPT Codes*

81286x1, 81185x1, 81403x1, 81404x1, 81405x2, 81406x4, 81407x1, 81408x2

ABN Required

No

Turnaround Time**

6 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Dried Blood Spots | Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.