Nystagmus

Tests Available

Forms and Documents

Test Details

A2ML1, AARS, AARS2, ABCA4, ABCB7, ABHD12, ABHD5, ACO2, ACOX1, ACTB, ACTG1, ADAM9, ADAMTS10, ADAMTSL4, ADAR, ADGRG1, ADGRV1 (GPR98), ADSL, AFG3L2, AGBL5, AGK, AGPS, AHI1, AIMP1, AIPL1, AKR1E2, ALDH18A1, ALDH1A3, ALDH6A1, ALG13, ALG2, ALMS1, ALX1, ALX3, ALX4, ANK1, ANKRD11, ANO10, ANOS1, ANTXR1, AP3B1, AP4E1, APTX, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL2BP, ARL6, ARNT2, ARVCF, ARX, ASAH1, ASPA, ATCAY, ATF6, ATM, ATN1, ATOH7, ATP1A2, ATP1A3, ATP2B3, ATP5A1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, B3GALNT2, B3GLCT, B4GALNT1, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BCS1L, BDNF, BEAN1, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, BRAF, BRIP1, BUB1, BUB1B, BUB3, C10ORF11, C12ORF57, C12ORF65, C2ORF71, C5orf42, C8ORF37, CA4, CABP4, CACNA1A, CACNA1F, CACNA2D4, CACNB4, CAPN15, CASK, CAV1, CBS, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CDK19, CDKL5, CEP104, CEP120, CEP164, CEP290, CEP41, CEP57, CERKL, CHD7, CHM, CHMP1A, CHMP4B, CHN1, CIB2, CISD2, CLCN7, CLDN16, CLDN19, CLIP2, CLN5, CLP1, CLPP, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COG4, COL11A1, COL18A1, COL25A1, COL2A1, COL4A1, COL9A1, COMT, COQ2, COX10, COX15, CPLX1, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTBP1, CTDP1, CYP1B1, CYP27A1, CYP4V2, CYP51A1, DAG1, DARS, DARS2, DCAF8, DCX, DGUOK, DHCR24, DHCR7, DHDDS, DLAT, DLL4, DNM1L, DOCK6, DPAGT1, DPM1, DPYD, DTNBP1, DUSP6, EBP, ECHS1, EDNRB, EEF2, EFNB1, EGR2, ELN, ELOVL4, ELOVL5, ELP4, EOGT, EPG5, EPHA2, EPHX1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERMARD, ESCO2, EXOSC3, EXT2, EYA1, EYS, FA2H, FAM111A, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBXL4, FEZF1, FGF14, FGF17, FGF8, FGFR1, FGFRL1, FIG4, FKRP, FKTN, FLRT3, FLVCR1, FMR1, FOXC1, FOXD1, FOXD3, FOXE3, FOXL2, FOXP2, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FXN, FYCO1, FZD4, GABRD, GALC, GALK1, GALT, GAN, GATA3, GBA, GBA2, GCNT2, GDF3, GDF6, GFAP, GFM1, GJA1, GJA3, GJA8, GJB1, GJC2, GLI2, GLI3, GM2A, GMPPA, GMPPB, GNAS, GNAT1, GNAT2, GNPAT, GP1BB, GPR143, GPR179, GRID2, GRIP1, GRK1, GRM1, GRM6, GTF2IRD1, GUCA1A, GUCA1B, GUCY2D, HARS, HARS2, HCCS, HDAC6, HDAC8, HESX1, HGSNAT, HIBCH, HIRA, HMGB3, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HS6ST1, HSD17B10, HSD17B4, HSF4, HSPD1, HYLS1, IARS2, IDH3B, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IGBP1, IL17RD, IMPDH1, IMPG2, INPP5E, IQCB1, ISPD, ITM2B, ITPR1, JAM3, JMJD1C, KARS, KAT6B, KCNA1, KCNAB2, KCNC3, KCND3, KCNJ13, KCNV2, KDM6A, KIAA0556, KIAA0586, KIDINS220, KIF11, KIF1A, KIF1C, KIF2A, KIF7, KISS1R, KIZ, KLHL7, KMT2D, KRAS, L1CAM, L2HGDH, LAMA1, LAMB2, LAMC1, LARGE1, LARS2, LCA5, LETM1, LIG4, LIMK1, LMNB1, LMX1B, LONP1, LRAT, LRIT3, LRP4, LRP5, LTBP2, LYST, LZTFL1, LZTR1, MAB21L2, MAD2L2, MAF, MAFB, MAG, MAK, MAN2B1, MANBA, MAP2K1, MAP2K2, MAPRE2, MARS2, MAT1A, MBTPS2, MC1R, MCOLN1, MCPH1, MECP2, MED12, MERTK, MFRP, MFSD6L, MIP, MITF, MKKS, MKS1, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MPDU1, MPLKIP, MPV17, MPZ, MRE11, MTPAP, MTR, MTRR, MVK, MYH9, MYO5A, MYO7A, NAA10, NADK2, NAGA, NALCN, NANS, NARS2, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECTIN3, NEK2, NELFA, NEU1, NF1, NHS, NIPBL, NMNAT1, NOTCH1, NPC1, NPC2, NPHP1, NPHP4, NPHS2, NR2E3, NR2F1, NRAS, NRL, NSD1, NSD2, NSMF, NSUN2, NT5C2, NUBPL, NUP62, NYX, OCA2, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPN1LW, OTX2, PALB2, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDGFRB, PDP1, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX5L, PEX6, PEX7, PGK1, PHF21A, PHF6, PHGDH, PHIP, PHYH, PIEZO2, PIGN, PIGT, PIK3CA, PIK3R5, PITPNM3, PITX2, PITX3, PLA2G6, PLEKHG4, PLK4, PLP1, PMM2, PMP22, PMPCA, PNPLA6, POC1B, POLG, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PPOX, PQBP1, PRCD, PRDM16, PRICKLE2, PRKCG, PROK2, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRRT2, PRSS12, PRSS56, PRX, PSAT1, PTCH1, PTCH2, PTPN11, PTPN22, PURA, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RAB40AL, RAD21, RAD51, RAD51C, RAF1, RAP1B, RARB, RARS, RASA2, RAX, RAX2, RBBP8, RBP3, RBP4, RBPJ, RD3, RDH12, RECQL4, RELN, RERE, RFC2, RGR, RHO, RIMS1, RIPK4, RIT1, RLBP1, RNASEH2C, RNASET2, RNF216, RNLS, ROBO3, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RREB1, RS1, RTN4IP1, RUBCN, SACS, SAG, SALL1, SALL4, SAMD9L, SC5D, SCN1A, SCN8A, SDCCAG8, SDHA, SDHAF1, SEC23A, SEC24C, SEMA3A, SEMA3E, SEMA4A, SERPINI1, SETX, SH2B1, SH3TC2, SHH, SIL1, SIM1, SIN3A, SIX3, SIX5, SIX6, SKI, SLC12A6, SLC16A12, SLC16A2, SLC17A5 , SLC19A2, SLC19A3, SLC1A3, SLC24A1, SLC24A5, SLC25A20, SLC25A4, SLC25A46, SLC29A3, SLC2A1, SLC33A1, SLC35A2, SLC38A8, SLC39A8, SLC45A2, SLC4A11, SLC52A2, SLC6A19, SLC7A14, SLC9A1, SLC9A6, SLX4, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMO, SMOC1, SNIP1, SNRNP200, SNX10, SNX14, SOS1, SOS2, SOST, SOX10, SOX11, SOX2, SOX3, SPAST, SPATA5, SPATA7, SPG11, SPG7, SPRY4, SPTBN2, SRD5A3, SREBF2, STRA6, STUB1, SUFU, SURF1, SYNE1, SYT14, TACO1, TACR3, TAF2, TAT, TBC1D20, TBL2, TBP, TBR1, TBX1, TBX15, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDRD7, TENM3, TFAP2A, TINF2, TMEM114, TMEM126A, TMEM126B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, TMEM98, TNFRSF11A, TNFSF11, TOPORS, TPK1, TPP1, TRAF3IP1, TREX1, TRIM32, TRIM44, TRPM1, TSPAN12, TTBK2, TTC19, TTC8, TTPA, TTR, TUB, TUBB, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUFM, TULP1, TWNK, TYR, TYRP1, UBE2T, UBE3A, UBE3B, UCHL1, UFD1, UROC1, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VLDLR, VPS13A, VPS13B, VSX2, WDPCP, WDR11, WDR19, WDR35, WDR48, WDR73, WFS1, WHRN, WNT3, WRN, WWOX, XRCC2, XRCC4, XYLT2, YAP1, YARS2, ZEB2, ZFYVE26, ZFYVE27, ZNF408, ZNF423, ZNF513, ZNF592

Molecular confirmation of a clinical diagnosis
To assist with decisions about treatment and management of individuals with nystagmus
Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies

Ordering

J894
8 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81185x1, 81400x1, 81403x1, 81404x5, 81405x1, 81406x2, 81407x1, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References