Leber Congenital Amaurosis, Autosomal Dominant

Leber Congenital Amaurosis LCA is a group of congenital inherited diseases of the retina that lead to severe early infantile blindness before the age of 1 year. Clinical findings include severe and early vision loss, sensory nystagmus, amaurotic pupils, and the electroretinogram (ERG) shows severely reduced scotopic and photopic responses. A normal ERG excludes a diagnosis of LCA. Visual function and acuity in LCA patients varies widely. LCA patients often have high refractive errors as well as photoaversion (photophobia) and night blindness. Other ocular findings may include cataract and keratoconus, which is a degenerative non-inflammatory disorder of the cornea. Patients with LCA may also experience olfactory dysfunction. The ocular disorders whose phenotype overlaps with LCA include complete and incomplete achromatopsia, complete and incomplete congenital stationary night blindness, albinism, and optic nerve hypoplasia.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing

Ordering

TA76
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.54 Congenital folds and cysts of posterior segment
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
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.

References

  1. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  2. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  3. Downes et al., (2001) Arch Ophthalmol 119:96-105
  4. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  5. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  6. Allikmets, et al (1998) Gene 215: 111-122
  7. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  8. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  9. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  10. Freund CL et al., (1997) Cell. 91(4):543- 553
  11. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  12. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  13. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015

Forms and Documents

Test Details

AAAS, ABCA1, ABCA4, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ACOX1, ACTB, ACTG1, ACVR1, ACVR2B, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADGRV1 (GPR98), ADIPOR1, AGBL1, AGBL5, AGK, AGPS, AHI1, AIPL1, AIRE, AKAP9, ALDH18A1, ALDH1A3, ALDH3A2, ALG2, ALG6, ALMS1, ALX1, AMACR, AMT, ANKLE2, ANKS6, ANTXR1, AP3B1, AP3D1, ARL13B, ARL2BP, ARL3, ARL6, ARNT2, ARSB, ARX, ASB10 (GLC1F), ASPA, ASPH, ASRGL1, ATAD3A, ATF4, ATF6, ATIC, ATM, ATOH7, ATP13A2, ATP1A3, ATXN7, B3GALNT2, B3GALTL, B4GAT1, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BCS1L, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP1, BMP4, BMP7, BRAF, BRIP1, BTD, BUB1B, C10ORF11, C10orf2, C12ORF57, C12ORF65, C1ORF186, C1QTNF5, C21ORF2, C2CD3, C2ORF71, C5orf42, C8ORF37, CA2, CA4, CABP4, CACNA1A, CACNA1F, CACNA1H, CACNA2D4, CANT1, CAPN15, CAPN5, CASK, CAV1, CBS, CC2D2A, CCDC103, CCDC114, CCDC28B, CCDC39, CCDC40, CD320, CD96, CDH23, CDH3, CDHR1, CDKN2A, CDON, CEP164, CEP250, CEP290, CEP41, CEP78, CEP83, CERKL, CFAP57, CHD3, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST14, CHST6, CHSY1, CIB2, CISD2, CKAP4, CLCN7, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CLUAP1, CNBP, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL4A1, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, COLEC11, COX14, COX6B1, COX7B, CP, CPAMD8, CRB1, CREBBP, CRELD1, CRIPT, CRTAP, CRX, CSPP1, CTC1, CTCF, CTDP1, CTNNA1, CTNS, CTSA, CTSD, CTSF, CWC27, CYP1B1, CYP27A1, CYP4V2, DAG1, DBH, DCDC1, DCN, DDB2, DDX11, DDX58, DFNB31, DHCR7, DHDDS, DHODH, DHX38, DIAPH1, DMD, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH10, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC17, DNAJC19, DNAJC5, DNAL1, DNM2, DOCK6, DPAGT1, DPM1, DRAM2, DSE, DTHD1, DTNBP1, DYNC2H1, EBP, EDN3, EDNRA, EFEMP1, EIF4G1, ELOVL4, ELP4, EMC1, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EVC, EVC2, EXOSC2, EXOSC8, EYA1, EYS, FAM111A, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FASTKD2, FBLN5, FBN2, FBXL4, FIBP, FKBP14, FKRP, FKTN, FLNB, FLVCR1, FOXC1, FOXC2, FOXD1, FOXE3, FOXF2, FOXH1, FOXL2, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FXN, FYCO1, FZD4, GALE, GALK1, GALNS, GALT, GBA, GBA2, GCNT2, GCSH, GDF1, GDF3, GDF6, GFER, GJA1, GJA8, GJB2, GJB6, GJE1, GLB1, GLDC, GLIS2, GLIS3, GM2A, GMPPA, GMPPB, GNAT1, GNAT2, GNB1, GNB3, GNPAT, GNPTG, GNS, GPC3, GPHN, GPR125, GPR143, GPR179, GRIP1, GRK1, GRM6, GRN, GSN, GSS, GTF2H5, GUCA1A, GUCA1B, GUCY2D, GUSB, HADHA, HADHB, HARS, HCCS, HCN1, HDAC6, HESX1, HEXA, HEXB, HGSNAT, HK1, HLCS, HMCN1, HMGB3, HMX1, HNRNPDL, HOXB1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HYLS1, IARS2, IBA57, IDH3B, IDUA, IFIH1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IFT88, IGBP1, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRX1, ISCA2, ISPD, ITM2B, ITPR1, JAG1, JAM3, KAT6B, KCNJ13, KCNJ3, KCNV2, KCTD7, KDM6A, KERA, KIAA0586, KIAA1549, KIDINS220, KIF11, KIF5A, KIF7, KIZ, KLHL7, KMT2D, KRT12, KRT2, KRT3, LAMA1, LAMB1, LAMB2, LARGE1, LCA5, LCT, LEFTY2, LEMD2, LHX2, LIM2, LMX1B, LONP1, LOXHD1, LOXL1, LRAT, LRIT3, LRP2, LRP5, LRPAP1, LRRC6, LSS, LTBP2, LTBP3, LYST, LZTFL1, MAB21L2, MAF, MAK, MAN2B1, MAP3K7, MAPKAPK3, MBD5, MBTPS2, MCEE, MCOLN1, MECR, MED25, MERTK, MFF, MFN2, MFRP, MFSD8, MICALCL, MIP, MIPEP, MKKS, MKS1, MLPH, MMAA, MMAB, MMACHC, MMADHC, MMP1, MMP19, MOCS1, MPDU1, MPLKIP, MRE11, MSMO1, MTTP, MUT, MVK, MYH9, MYO5A, MYO7A, MYOC, NAA10, NBAS, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NEK2, NEK4, NEK8, NEU1, NEUROD1, NF1, NHS, NKX2-5, NLRP1, NME8, NMNAT1, NOD2, NODAL, NOTCH2, NPC1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NSD1, NT5C2, NTF4, NUB1, NUS1, NXNL1, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OPTN, OSMR, OSTM1, OTX2, OVOL2, P3H2, P4HA2, PANK2, PAX2, PAX3, PAX6, PCDH15, PCNA, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGK1, PHGDH, PHYH, PIEZO2, PIGL, PIGT, PIGY, PIK3R1, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLG, PLK4, PLOD1, PLOD3, PLP1, PMM2, PNPLA6, POC1B, POGZ, POLA1, POMGNT1, POMGNT2, POMK, POMT1, PORCN, PPT1, PQBP1, PRCD, PRDM13, PRDM5, PRIMPOL, PRKACA, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PTCH1, PTF1A, PTPN11, PVRL3, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RAD50, RAI1, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RECQL4, REEP6, RERE, RGR, RGS9, RGS9BP, RHO, RIMS1, RIPK4, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS19, RRM2B, RS1, RSPH4A, RSPH9, RSPO1, SACS, SAG, SALL2, SALL4, SAMD9, SBF2, SC5D, SCARF2, SCN8A, SCO2, SDCCAG8, SDHAF1, SEC23A, SEMA3E, SEMA4A, SERPINH1, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX3, SIX5, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A1, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC4A4, SLC4A5, SLC4A7, SLC52A2, SLC52A3, SLC7A14, SLITRK6, SLX4, SMCHD1, SMG9, SMOC1, SMPD1, SNAI2, SNRNP200, SNX10, SNX3, SOD1, SON, SOX2, SOX3, SPARC, SPATA7, SPINT2, SPP2, SPTBN2, SRD5A3, SREBF2, ST3GAL5, STIM1, STK38L, STN1, STRA6, STS, STT3B, SUCLA2, SUOX, TACSTD2, TAT, TBC1D20, TBC1D7, TBCE, TBL1XR1, TCF4, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM1, TENM3, TFAP2A, TGFB1, TGFBI, TIMM8A, TIMP3, TINF2, TLR3, TLR4, TMEM107, TMEM114, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TMEM98, TMTC3, TNFSF11, TNPO1, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRIM37, TRIM44, TRNT1, TRPC1, TRPM1, TRPM2, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUB, TUBA8, TUBB, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBE3B, UBIAD1, UBR1, UCHL1, UNC119, UNC45B, USH1C, USH1G, USH2A, USP9X, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WAC, WASF3, WDPCP, WDR19, WDR34, WDR35, WDR36, WFS1, WRN, XPA, XPC, XPNPEP3, YAP1, YME1L1, ZEB1, ZEB2, ZIC3, ZNF408, ZNF423, ZNF469, ZNF513, ZNF592, ZNF644
  • 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

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.

References

  1. Sahel et al. (2014) Cold Spring Harb Perspect Med 5 (2):a017111 (PMID: 25324231)
  2. Kocur et al. (2002) Br J Ophthalmol 86 (7):716-22 (PMID: 12084735);
  3. Ayuso et al. (2010) Genome Med 2 (5):34 (PMID: 20519033)
  4. Finger et al. (2011) Invest. Ophthalmol. Vis. Sci. 52 (7):4381-9 (PMID: 21447690)
  5. den Hollander et al. (2006) American Journal Of Human Genetics 79 (3):556-61 (PMID: 16909394)
  6. Braun et al. (2013) Human Molecular Genetics 22 (25):5136-45 (PMID: 23918662)
  7. Zernant et al. (2014) Hum. Mol. Genet. 23 (25):6797-806 (PMID: 25082829)
  8. Bauwens et al. (2015) Hum. Mutat. 36 (1):39-42 (PMID: 25346251)
  9. Schulz et al. (2017) Invest. Ophthalmol. Vis. Sci. 58 (1):394-403 (PMID: 28118664)
  10. Beryozkin et al. (2015) Sci Rep 5 :13187 (PMID: 26306921)
  11. Lee et al. (2015) Am. J. Ophthalmol. 160 (2):354-363.e9 (PMID: 25910913)
  12. de Castro-Miro et al. (2016) PLoS ONE 11 (12):e0168966 (PMID: 28005958)
  13. Haer-Wigman et al. (2017) Eur. J. Hum. Genet. 25 (5):591-599 (PMID: 28224992)
  14. Riera et al. (2017) Sci Rep 7 :42078 (PMID: 28181551)
  15. Carss et al. (2017) Am. J. Hum. Genet. 100 (1):75-90 (PMID: 28041643)
  16. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)