Retinitis Pigmentosa, Autosomal Recessive (arRP)

Retinitis Pigmentosa (RP) is a group of disorders involving progressive degeneration of the retina that leads to severe visual impairment. The age of onset of visuals symptoms is variable from early childhood to adulthood and is usually more severe if the disorder is inherited as an autosomal trait. The disorder usually manifests with decline and loss of night vision during adolescence, followed by loss of peripheral vision in young adulthood, and loss of central vision in later life due to the progressive loss of rod and cone photoreceptors. Common symptoms include night blindness and a decreasing visual field, leading to tunnel vision, legal blindness or, in many cases, complete blindness. Clinical hallmarks are an abnormal fundus with bone-spicule deposits and attenuated retinal vessels. The electroretinogram (ERG) findings in RP patients show reduced rod and cone response amplitudes, which is moderate in dominant inheritance and barely detectable in recessive and X-linked patients.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • To differentiate ARRP, adRP, and X-linked RP from other forms of retinal dystrophy and retinal degeneration
  • Recurrence risk assessment
  • Prenatal diagnosis

Ordering

TA90
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

Billing

81479x1
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. Danciger M et al., (1996) Mol Vis 2:10
  2. den Hollander et al., (1999) Nat Genet 23:217–221
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  19. Weston et al., 2000 Am J Hum Genet 66:1199-210
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  25. Danciger M et al., (1995) Genomics 1;30(1):1-7
  26. Collin RWJ (2009) ARVO meeting, May3-7, Fort Lauderdale, FL
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  29. Booij JC (2005) J Med Genet 42:e67
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  32. Bennett S et al., (2004) Pharmacogenomics 5:433-8
  33. Allikmets et al., (1998) Gene 215: 111- 122
  34. Abd El-Aziz MM et al., (2008) Nat Genet 40:1285-7
  35. Abd El-Aziz MM et al., (2007) Ann Hum Genet 71:281-94

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);
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  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)