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AAAS, ABCA4, ABCB6, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ACTB, ACTG1, ACVR1, ACVR2B, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADIPOR1, AFG3L2, AGBL1, AGBL5, AGK, AGPS, AHI1, AHR, AIPL1, AKR1E2, ALDH18A1, ALDH1A3, ALDH3A2, ALG2, ALG6, ALMS1, ALX1, AMACR, ANKS6, ANTXR1, AP3B1, AP3D1, AP5Z1, APTX, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARNT2, ARSG, ARX, ASB10 (GLC1F), ASIC5, ASPH, ASRGL1, ATAD3A, ATF6, ATM, ATOH7, ATP13A2, ATP1A3, ATP6V1E1, B3GALNT2, B4GAT1, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BCS1L, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, BMP7, BRIP1, BTD, C10ORF11, C10orf2, C12ORF57, C12ORF65, C1QTNF5, C21ORF2, C2CD3, C2ORF71, C5orf42, C8ORF37, CA2, CA4, CABP4, CACNA1A, CACNA1F, CACNA1H, CACNA2D4, CANT1, CAPN15, CAPN5, CASK, CAV1, CBS, CC2D2A, CCDC28B, CCT2, CD96, CDH23, CDH3, CDHR1, CDON, CENPF, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CEP83, CERKL, CFAP57, CFH, CFI, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2, CISD2, CKAP4, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL5A1, COL8A2, COL9A1, COL9A2, COL9A3, COX14, COX6B1, COX7B, CPAMD8, CRB1, CRB2, CREBBP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNA1, CTNNB1, CTNS, CTSD, CTSF, CWC27, CYP1B1, CYP27A1, CYP4V2, CYP51A1, DAG1, DCN, DDB2, DFNB31, DGKQ, DHCR7, DHDDS, DHX32, DHX38, DIAPH1, DNAH11, DNAJC17, DNAJC19, DNAJC5, DNM1L, DNM2, DNMBP, DPAGT1, DPM1, DRAM2, DSCAML1, DTHD1, DTNBP1, DYNC2H1, EDN3, EDNRB, EFEMP1, EIF2B2, ELOVL4, EMC1, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ESPN, EVC, EVC2, EXOC8, EXOSC2, EYA1, EYS, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FASTKD2, FBLN5, FBXL4, FDXR, FIBP, FKRP, FKTN, FLVCR1, FOXC1, FOXC2, FOXD1, FOXE3, FOXL2, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GBA, GCNT2, GDF3, GDF6, GFER, GJA1, GJA3, GJA8, GJB2, GJB6, GJC3, GLA, GLB1, GLIS2, GMPPA, GMPPB, GNAI3, GNAT1, GNAT2, GNB1, GNB3, GNB5, GNPAT, GNPTG, GNS, GPR125, GPR143, GPR179, GPR98, GRIP1, GRK1, GRM6, GRN, GSN, GTF2H5, GUCA1A, GUCA1B, GUCY2D, HADHA, HADHB, HARS, HCCS, HCN1, HESX1, HEXA, HEXB, HGSNAT, HK1, HMCN1, HMGB3, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HYLS1, IARS2, IDH3A, IDH3B, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IFT88, IGBP1, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, INVS, IQCB1, ISCA2, ISPD, ITM2B, ITPR1, JAG1, JAM3, KAT6B, KCNJ13, KCNV2, KCTD7, KERA, KIAA0556, KIAA0586, KIAA0753, KIAA1549, KIDINS220, KIF11, KIF21A, KIF5A, KIF7, KITLG, KIZ, KLHL7, KRT12, KRT3, LAMA1, LAMB1, LCA5, LCT, LEFTY2, LEMD2, LEPREL1, LIM2, LMX1B, LONP1, LOXHD1, LOXL1, LRAT, LRIT3, LRP2, LRP5, LRPAP1, LSS, LTBP2, LTBP3, LYST, LZTFL1, MAB21L2, MAF, MAK, MAN2B1, MAPKAPK3, MCOLN1, MECR, MED25, MERTK, MFF, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MLPH, MMACHC, MMP1, MMP19, MPDU1, MPDZ, MSMO1, MTTP, MVK, MYH9, MYO5A, MYO7A, MYOC, NAA10, NBAS, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NEK2, NEK8, NEU1, NEUROD1, NF1, NHS, NLRP1, NMNAT1, NOD2, NODAL, NOTCH2, NPC1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NTF4, NUBPL, NUS1, NXNL1, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OPTC, OPTN, OR2W3, OTX2, OVOL2, P4HA2, PANK2, PAX2, PAX3, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHOX2A, PHYH, PIBF1, PIEZO2, PIGL, PIGT, PIGY, PIK3R1, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PLOD1, PLOD3, PMM2, PNPLA6, POC1B, POC5, POGZ, POMGNT1, POMT1, PORCN, PPT1, PQBP1, PRCD, PRDM13, PRDM5, PRIMPOL, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PTCH1, PVRL3, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RECQL4, REEP6, RERE, RGR, RGS6, RGS9, RGS9BP, RHO, RIMS1, RLBP1, RNLS, ROBO3, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS19, RRAGA, RRM2B, RS1, RTN4IP1, SACS, SAG, SALL1, SALL2, SALL4, SAMD11, SBF2, SC5D, SCAPER, SCLT1, SCO2, SDCCAG8, SDHAF1, SEC23A, SEMA3E, SEMA4A, SETX, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX3, SIX5, SIX6, SLC16A12, SLC18A3, SLC24A1, SLC24A5, SLC25A1, SLC25A4, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC4A4, SLC4A5, SLC4A7, SLC52A2, SLC7A14, SLITRK6, SLX4, SMCHD1, SMOC1, SMPD1, SNAI2, SNRNP200, SOX10, SOX2, SOX3, SPATA7, SPINT2, SPP2, SRD5A3, SREBF2, STRA6, STS, STT3B, STX3, SUCLA2, SUFU, SUOX, SYTL4, TACSTD2, TBC1D20, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFB1, TGFBI, TIMM8A, TIMP3, TINF2, TLR3, TLR4, TMED7, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TMEM98, TNPO1, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSFM, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUB, TUBA8, TUBB, TUBB3, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYMP, TYR, TYRP1, UBE3B, UBIAD1, UCHL1, UNC119, UNC45B, USH1C, USH1G, USH2A, USP9X, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WDR34, WDR35, WDR36, WDR60, WDR87, WFS1, WRN, XPA, XPC, XYLT2, YAP1, YME1L1, ZEB1, ZEB2, ZIC3, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644, ZNHIT3
- Achromatopsia
- Bardet-Biedl Syndrome
- Bestretinopathy
- Cone-Rod Dystrophy, Autosomal Dominant
- Cone-Rod Dystrophy, Autosomal Recessive
- exudative vitreoretinopathy
- Fundus Albipunctatus
- Joubert Syndrome
- Leber Congenital Amaurosis, Autosomal Dominant
- Leber Congenital Amaurosis, Autosomal Recessive
- Leigh Syndrome
- Macular Dystrophy, Autosomal Dominant
- Macular Dystrophy, Autosomal Recessive
- Macular Dystrophy, Stargardt-Like
- Night Blindness
- Oculocutaneous Albinism
- Optic Atrophy
- Retinitis Pigmentosa, Autosomal Dominant (adRP)
- Retinitis Pigmentosa, Autosomal Recessive (arRP)
- Retinitis Pigmentosa, X-linked
- Stargardt Disease
- Usher Syndrome
- Molecular confirmation of a clinical diagnosis
- To assist with decisions about treatment and management of individuals with retinal dystrophies
- 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
J905
8 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
81434x1
Yes
Yes
For price inquiries please email zebras@genedx.com
**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.
**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.
References
- Sahel et al. (2014) Cold Spring Harb Perspect Med 5 (2):a017111 (PMID: 25324231)
- Kocur et al. (2002) Br J Ophthalmol 86 (7):716-22 (PMID: 12084735);
- Ayuso et al. (2010) Genome Med 2 (5):34 (PMID: 20519033)
- Finger et al. (2011) Invest. Ophthalmol. Vis. Sci. 52 (7):4381-9 (PMID: 21447690)
- den Hollander et al. (2006) American Journal Of Human Genetics 79 (3):556-61 (PMID: 16909394)
- Braun et al. (2013) Human Molecular Genetics 22 (25):5136-45 (PMID: 23918662)
- Zernant et al. (2014) Hum. Mol. Genet. 23 (25):6797-806 (PMID: 25082829)
- Bauwens et al. (2015) Hum. Mutat. 36 (1):39-42 (PMID: 25346251)
- Schulz et al. (2017) Invest. Ophthalmol. Vis. Sci. 58 (1):394-403 (PMID: 28118664)
- Beryozkin et al. (2015) Sci Rep 5 :13187 (PMID: 26306921)
- Lee et al. (2015) Am. J. Ophthalmol. 160 (2):354-363.e9 (PMID: 25910913)
- de Castro-Miro et al. (2016) PLoS ONE 11 (12):e0168966 (PMID: 28005958)
- Haer-Wigman et al. (2017) Eur. J. Hum. Genet. 25 (5):591-599 (PMID: 28224992)
- Riera et al. (2017) Sci Rep 7 :42078 (PMID: 28181551)
- Carss et al. (2017) Am. J. Hum. Genet. 100 (1):75-90 (PMID: 28041643)
- Retterer et al. (2015) Genet. Med.: (PMID: 26633542)