Genomic Unity® Neurology Analysis

Neurological disorders are particularly difficult to diagnose due to their heterogeneous nature. While the age of onset and exact symptoms vary from patient to patient, most neurological disorders persist throughout the patient’s life and are progressively debilitating. An early diagnosis can be instrumental in determining likely prognosis and guiding clinical management to delay onset of additional symptoms.

Genomic Unity® Neurology Analysis is an effective test for the genetic cause of many neurological disorders including:

Order this test when the patient presents with neurological symptoms, and you'd like the option to reflex up to Genomic Unity® Whole Genome 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® Whole Genome Analysis or Genomic Unity® Exome 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, DMPK, 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 PRODHNEB, 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.

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

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.