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Achromatopsia Panel

The DBGen achromatopsia panel includes a genetic study of 11 genes known to cause the disease.

About achromatopsia


Achromatopsia (also known as monochromatism) exhibits autosomal recessive or X-linked pattern of inheritance. It is characterized by chromatic blindness (inability to distinguish colors), nystagmus and photophobia. It occurs at a rate of between 1:30,000 and 1:50,000 individuals. It is caused primarily by mutations in genes involved in phototransduction in the cones. The major genes are CNGA3 and CNGB3.

Pathologies


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

  • Achromatopsia

  • Jalili syndrome


Genes analyzed


ATF6, CNGA3, CNGB3, CNNM4, GNAT2, OPN1LW, OPN1MW, OPN1SW, PDE6C, PDE6H, RPGR (ORF15 included)

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 €690. 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 and simultaneous 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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