Order this test when the patient presents with neurological symptoms, and you'd like the option to reflex up to Genomic Unity^® Exome Plus Analysis.

Sequencing analysis of neurology associated genes

Del/dup analysis of neurology associated genes

Adult-onset movement disorder (with or without cognitive involvement) STR analysis: AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DMPK, FMR1, FXN, NOP56, NOTCH2NLC, PPP2R2B, TBP

Early-onset intellectual disability disorder STR analysis: AFF2, AFF3, DIP2B, FMR1

Optionally includes:

Huntington-related STR analysis (requires special consent): HTT, JPH3

Reflex to Genomic Unity^® Exome Plus Analysis

A2M, AAAS, AANAT1, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA7, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACAT1, ACE, ACER3, ACKR1, ACO2, ACOX1, ACSF3, ACSL4, ACTA2, ACTAT1, ACTB, ACTG1, ACVRL1, ACY1, ADAM10, ADAR, ADCK3, ADCY5, ADGRG1, ADGRV1, ADK, ADNP, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AGRN, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX5AP, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMMECR1, AMN, AMPD1, AMPD2, AMT, ANG, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANO5, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARL6IP1, ARNT1, ARSA, ARSB, ARSE, ARSI, ARV1, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATAD3A, ATCAY, ATIC, ATL1, ATL3, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP2B4, ATP5E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, AUH, AUTS2, B3GALNT2, B3GLCT, B4GALNT1, B4GAT1, B4GLAT1, B9D1, B9D2, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCORL1, BCS1L, BDNF, BEAN1, BEST1, BICD2, BIN1, BLOC1S3, BLOC1S6, BMP4, BOLA3, BRAF, BRAT1, BRWD3, BSCL2, BSND, BTD, BVES, C12ORF57, C12ORF65, C19ORF12, C9ORF72, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNA1H, CACNA1S, CACNA2D2, CACNB4, CACNG2, CAMTA1, CAPN1, CAPN3, CARS2, CASC5, CASK, CASR, CAV3, CBL, CC2D1A, CC2D2A, CCDC22, CCDC28B, CCDC78, CCDC88A, CCDC88C, CCM2, CCND2, CCT5, CD207, CD320, CD36, CD59, CD96, CDH15, CDK11A, CDK5RAP2, CDKL5, CDKN1C, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CERS1, CFL2, CHAT, CHCHD10, CHCHD2, CHD2, CHD7, CHD8, CHKB, CHMP1A, CHMP2B, CHN1, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHSY1, CISD2, CISH, CIT, CIZ1, CLCN1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CNBP, CNKSR2, CNOT3, CNTN1, CNTN6, CNTNAP2, CNTNAP4, COA5, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL12A1, COL18A1, COL4A1, COL4A2, COL4A3BP, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CP2, CPA6, CPLANE1, CPLX1, CPOX, CPT2, CR1, CRBN, CREBBP, CRYAB, CSF1R, CSF2RB, CSNK2A1, CSPP1, CST3, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTFD, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYP11B2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCAF8, DCHS1, DCTN1, DCX, DDC, DDHD1, DDHD2, DDOST, DDX3X, DEAF1, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DHFR, DHH, DHTKD1, DIAPH1, DIAPH3, DIS3L2, DISP1, DKC1, DLAT, DLD, DLG3, DLL1, DLL4, DMD, DNAH9, DNAJB2, DNAJB6, DNAJC19, DNAJC5, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DRD2, DRD3, DSC3, DST, DTNBP1, DYNC1H1, DYNC2H1, DYRK1A, DYSF, EARS2, EBF3, EBP, ECHS1, ECM1, EDN3, EDNRB, EED, EEF1A2, EEF2, EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4E, EIF4G1, ELK1, ELOVL4, ELOVL5, ELP1, EMD, EMX2, EN2, ENO3, ENTPD1, EOGT, EOMES, EP300, EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC8, EXOSC3, EXOSC8, EZH2, F2, F5, FA2H, FADD, FAM126A, FAM134B, FANCB, FAR1, FARS2, FASTKD2, FAT4, FBLN5, FBXL4, FBXO38, FBXO7, FCGR2B, FECH, FGA, FGD1, FGD4, FGF10, FGF12, FGF14, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FHL1, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNC, FLRT1, FLVCR1, FLVCR2, FMR1, FOLR1, FOXC1, FOXG1, FOXH1, FOXP1, FOXP2, FOXP3, FOXRED1, FREM1, FRG1, FRMD7, FRMPD4, FRRS1L, FTCD, FTL, FTO, FTSJ1, FUS, FXN, FZD9, GAA, GABBR2, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GAMT, GAN, GARS, GAS1, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCSH, GDAP1, GDI1, GDNF, GFAP, GFER, GFM1, GFPT1, GIGYF2, GJA1, GJB1, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUL, GLYCTK, GM2A, GMPPB, GNAL, GNAO1, GNB1, GNB4, GNE, GNPAT, GNS, GOSR2, GP1BA, GPC3, GPHN, GPR143, GPSM2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRM7, GRN, GSS, GTPBP3, GUF1, GUSB, GYG1, GYS1, HACE1, HADHA, HADHB, HAL, HARS1, HARS2, HCCS, HCFC1, HCN1, HCN4, HDAC4, HDAC6, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HINT1, HIVEP2, HK1, HMBS, HMGB3, HMGCS2, HNRNP2B1, HNRNPA1, HNRNPDL, HNRNPH2, HNRNPU, HOXA1, HOXD10, HPCA, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTRA2, HTT, HUWE1, HYAL1, IBA57, ICAM1, ICK, IDS, IDUA, IER3IP1, IFIH1, IFRD1, IFT140, IFT172, IFT27, IGBP1, IGF1, IGHMBP2, IKBKAP, IKBKG, IL11RA, IL1RAPL1, IL1RN, INF2, INPP5E, INS, IQSEC2, IRX5, ISCA2, ISCU, ISPD, ITGA7, ITM2B, ITPA, ITPR1, JMJD1C, JRK, KANK1, KANSL1, KARS, KAT6A, KAT6B, KATNB1, KBTBD13, KCNA1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNE1L, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0586, KIF11, KIF1A, KIF1B, KIF1BP, KIF1C, KIF21A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KIRREL3, KLF8, KLHL15, KLHL40, KLHL41, KMT2A, KMT2B, KMT2D, KMT5B, KNL1, KPTN, KRAS, KRIT1, KRT5, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE, LARGE1, LARS2, LAS1L, LBR, LDB3, LDHA, LETM1, LGI1, LHX4, LIAS, LIG4, LIMS2, LINS1, LIPT1, LITAF, LMBRD1, LMNA, LMNB1, LMNB2, LMOD3, LPIN1, LPIN2, LRP2, LRP4, LRPPRC, LRRK2, LRSAM1, LYRM7, LYZ, LZTFL1, MAG, MAGEL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAOA, MAP2K1, MAPK10, MAPT, MARS1, MARS2, MASP1, MAT1A, MATR3, MBD5, MBTPS2, MCEE, MCM3AP, MCOLN1, MCPH1, MCPH2, MECP2, MECR, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEGF10, MET, MFN2, MFSD2A, MFSD8, MGAT2, MICU1, MID1, MID2, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MME, MOCS1, MOCS2, MOGS, MORC2, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11, MRPL44, MRPS22, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MTTP, MUSK, MUT, MVK, MYCN, MYF6, MYH14, MYH2, MYH3, MYH7, MYH9, MYL2, MYO5A, MYOT, MYPN, MYT1L, NAA10, NACC1, NADK2, NAGA, NAGLU, NALCN, NAT8L, NBN, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NECAP1, NEDD4L, NEFH, NEFL, NEMO, NEU1, NEXMIF, NF1, NFIA, NFIX, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP12, NLRP3, NOD2, NODAL, NOG, NOL3, NONO, NOP56, NOS2, NOS3, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPRL3, NR2F1, NRAS, NRG1, NRXN1, NSD1, NSD2, NSDHL, NSUN2, NT5C2, NTRK1, NTRK2, NUBPL, NXF5, OCLN, OCRL, OFD1, OGT, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC, OTX2, PABPN1, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PARK2, PARK7, PAX6, PC, PCBD1, PCDH12, PCDH19, PCK2, PCNT, PDCD10, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDK3, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGK1, PGM1, PHF6, PHF8, PHGDH, PHKA1, PHOX2A, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R2, PIK3R5, PINK1, PLA2G6, PLCB1, PLEC, PLEKHG2, PLEKHG4, PLEKHG5, PLK4, PLP1, PMM2, PMP22, PNKD, PNKP, PNPLA2, PNPLA6, PNPO, POGLUT1, POGZ, POLA1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PPOX, PPP2R1A, PPP2R2B, PPP2R5D, PPT1, PQBP1, PRDM12, PREPL, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRKAG2, PRKCG, PRKCH, PRKDC, PRKN, PRKRA, PRNP, PRODH, PROP1, PRPH, PRPH2, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTCHD1, PTEN, PTF1A, PTPN11, PTS, PURA, PUS1, PVRL1, PYCR2, PYGM, QARS1, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, RAPSN, RARS1, RARS2, RASA1, RBBP8, RBCK1, RBFOX1, RBFOX3, RBM10, RBM8A, RBPJ, REEP1, REEP2, RELN, RET, RETREG1, RFT1, RIN2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF135, RNF170, RNF216, RNU4ATAC, ROBO3, ROGDI, ROR2, RPGRIP1L, RPIA, RPL10, RPS6KA3, RPSK6C1, RRM2B, RSK2, RTN2, RTN4IP1, RTTN, RUBCN, RXYLT1, RYR1, SACS, SALL4, SAMHD1, SATB2, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SELENON, SEPN1, SEPSECS, SEPT9, SERAC1, SERPINI1, SETBP1, SETD2, SETD5, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH3TC2, SHANK2, SHANK3, SHH, SHOC2, SHPK, SHROOM4, SIGMAR1, SIK1, SIL1, SIX3, SIX6, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC38A8, SLC39A8, SLC3A1, SLC46A1, SLC4A1, SLC4A4, SLC52A2, SLC52A3, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SMAD2, SMAD3, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMCHD1, SMN1, SMN2, SMPD1, SMS, SNAP25, SNAP29, SNCA, SNCAIP, SNCB, SNIP1, SNORD118, SNX14, SNX3, SOBP, SOD1, SORL1, SOS1, SOX10, SOX2, SOX3, SPAST, SPATA5, SPEG, SPG11, SPG20, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAC3, STAG2, STAMBP, STAT1, STIL, STIM1, STRADA, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUN1, SUN2, SUOX, SURF1, SYN1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT14, SYT2, SZT2, TACO1, TAF1, TAF15, TAF2, TANGO2, TARDBP, TARS2, TAS2R38, TAZ, TBC1D20, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBP, TBR1, TBX1, TCAP, TCF20, TCF4, TCTN1, TCTN2, TCTN3, TDGF1, TDP1, TECPR2, TECR, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, THOC2, TIA1, TICAM1, TIMM8A, TIRAP, TK2, TLR3, TLR5, TM4SF20, TMCO1, TMEM126A, TMEM126B, TMEM138, TMEM165, TMEM187, TMEM216, TMEM231, TMEM237, TMEM240, TMEM43, TMEM5, TMEM67, TMEM70, TMLHE, TNF, TNFSF4, TNNI2, TNNT1, TNPO3, TOR1A, TOR1AIP1, TP63, TPK1, TPM2, TPM3, TPP1, TRAF3, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM2, TRIM32, TRIO, TRIP12, TRIP4, TRMT10A, TRMT5, TRPM6, TRPM7, TRPS1, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTN, TTP1, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWNK, TYMP, TYROBP, UBA1, UBA5, UBAP1, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UNC80, UNC93B1, UPB1, UPF3B, UQCRB, UQCRQ, UROD, UROS, USP27X, USP9X, VAMP1, VANGL1, VAPB, VARS2, VAX1, VCP, VDAC1, VEGFA, VHL, VIPAS39, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS35, VPS37A, VPS53, VRK1, WAC, WASHC5, WDPCP, WDR26, WDR45, WDR48, WDR62, WDR73, WDR81, WFS1, WNK1, WNT10A, WNT3, WNT5A, WNT7A, WT1, WWOX, XBP1, XK, XPR1, XRCC4, YAP1, YARS1, YWHAE, YY1, ZBTB16, ZBTB18, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZFR, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZMYM3, ZNF335, ZNF41, ZNF423, ZNF674, ZNF711, ZNF81

SNVs and Indels up to 50bp
99.7% sensitivity
99.6% positive predictive value

Note that the PRODH, NEB, and SIK1 genes are not fully covered by this test, therefore pathogenic variants may not be detected in these genes.

Structural variants:
96% clinical sensitivity

Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.

Disorders that can be tested for include:

Amytrophic lateral sclerosis
Ataxias
Charcot-Marie-Tooth
Congenital myasthenic syndrome
Dystonias
Epilepsies
Hereditary neuropathy with liability to pressure palsies (HNPP)
Huntington Disease
Mitochondrial myopathies
Muscular dystrophies
Myotonia and paramyotonia congenita
Spastic paraplegias
Spinal bulbar muscular atrophy
Parkinsons
Tyrosine hydroxylase deficiency

81161x1, 81171x1, 81173x1, 81175x1, 81177x1, 81178x1, 81179x1, 81180x1, 81181x1, 81182x1, 81183x1, 81184x1, 81185x1, 81187x1, 81188x1, 81189x1, 81204x1, 81234x1, 81236x1,81243x1, 81284x1, 81302x1, 81321x1, 81324x1, 81336x1, 81343x1, 81344x1, 81403x9, 81404x48, 81405x90, 81406x91, 81407x23, 81408x12, (81271x1)

The CPT codes provided 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.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.