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Congenital Stationary Night Blindness Panel

The DBGen congenital stationary night blindness panel includes a genetic study of 20 genes known to cause the disease.

About congenital stationary night blindness


Congenital stationary night blindness exhibits autosomal dominant, autosomal recessive and X-linked pattern of inheritance. It is a non-progressive disease characterized by problems with vision and adapting to darkness. It is typically accompanied by myopia, nystagmus and strabismus. Given its similarity to other retinal dystrophies, an accurate clinical diagnosis relies on electroretinographic testing.



Pathologies


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




  • Bietti crystalline dystrophy

  • Bothnia retinal dystrophy

  • Choroideremia

  • Congenital stationary night blindness

  • Oguchi disease


Genes analyzed


CABP4, CACNA1F, CACNA2D4, CHM, CYP4V2, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1



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).

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