type your search, and then press enter
Diagnostic tests
Test request
Pathologies
Genetic counseling

Retinitis Pigmentosa Panel

The DBGen retinitis pigmentosa panel includes a genetic study of 127 genes known to cause the disease.

About retinitis pigmentosa


Retinitis pigmentosa (RP) exhibits autosomal dominant, autosomal recessive and X-linked pattern of inheritance is the leading retinal dystrophy. It is characterized by an initial impairment of the rods, followed by the degeneration of the cones and the cells of the pigment epithelium. The first clinical symptoms are the loss of night vision and a diminished visual field (known as tunnel vision), but it is common for vision to be fully lost as the disease progresses. Its prevalence is 1:4,000, with over one million people affected worldwide.

Pathologies


The panel includes the genes most often responsible for the following disorders:

  • Bietti crystalline dystrophy

  • Bothnia retinal dystrophy

  • Bestrophinopathy

  • Central areolar choroidal dystrophy

  • Cohen syndrome

  • Choroideremia

  • Enhanced S-cone syndrome

  • Familial benign fleck retina

  • Fundus Albipunctatus

  • Mainzer-Saldino syndrome

  • Mevalonate kinase deficiency

  • Pigmented paravenous chorioretinal atrophy

  • Refsum disease

  • Retinitis pigmentosa

  • Retinoschisis

  • Vitreoretinochoroidopathy


Genes analyzed


ABCA4, ABHD12, AGBL5, AHR, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, BTD, C1QTNF5, C2orf71, C8orf37, CA4, CACNA1F, CDHR1, CEP250, CEP290, CERKL, CHM, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, EMC1, EYS, FAM161A, FLVCR1, FSCN2, GPR125, GRK1, GUCA1B, GUCY2D, GYLTL1B, HGSNAT, HK1, IDH3A,  IDH3B, IFT140, IFT172, IMPDH1, IMPG2, INPP5E, KIAA1549, KIZ, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MVK, NEK2, NEUROD1, NMNAT1, NR2E3, NRL, OAT, OFD1, PANK2, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX7, PHYH, PITPNM3, PLA2G5, POC5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RD3, RDH12, RDH5, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, RS1, SAG, SAMD11, SCAPER, SCLT1, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TOPORS, TRNT1, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, VPS13B, WDR19, ZNF408, ZNF513

Non-coding regions included: ABCA4 all introns; CEP290 c.2991+1655A>G, CHM c.315-4587T>A, CHM c.315-1536A>G, OFD1 c.935+706A>G, OPA1 c.610+360G>A, PRPF31 c.1374+654C>G, RPGRIP1 promotor, USH2A c.7595-2144A>G, USH2A c.8845+628C>T, USH2A c.9959-4159A>G, USH2A c.5573-834A>G

Recommended for


This test is recommended when the clinical diagnosis indicates one of the pathologies previously listed and when the clinical condition is clearly defined.


This panel is part of the Complete Panel of Retinal Dystrophies and other eye diseases and offers a very high diagnostic yield as it includes a high number of causative genes and because the method used allows identifying some structural genomic alterations difficult to characterize with other test types.

Price


From €825. Please contact us to know the options that best suit your needs.

Results


A detailed genetic report that includes the genetic variants identified and genetic counseling will be provided. Supporting information will be exhaustive based on bibliographical studies and database analyses and, especially, on our 25 years of experience researching the genetics of hereditary eye diseases.

The test will be performed once payment is made and the signed informed consent and the sample are received. The report will be delivered 12 to 14 weeks after the above conditions are satisfied.

Methodology


The diagnostic strategy relies on the automated sequencing of DNA on Illumina HiSeq 2000 sequencers that are specially designed for this kind of high-performance analysis. Our panels have been designed to prioritize the genomic regions associated with the hereditary eye diseases indicated in this text.

The likely pathogenic nucleotide variants are verified using Sanger sequencing. We check that their frequency in the control population is below 1% and that they meet the pathogenicity predictions as per established bioinformatics algorithms (SIFT, LRT, MutationTaster, PolyPhen2, CADD and NetGene2).
Copyright © 2019. All Rights Reserved -