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Macular Dystrophies and Stargardt Disease Panel

The DBGen macular dystrophies and Stargardt disease panel includes a genetic study of 30 genes known to cause the disease

About macular dystrophies and Stargardt disease


Macular dystrophy exhibits autosomal dominant and autosomal recessive pattern of inheritance. It is characterized by a localized impairment in the macula of the retina, which causes a loss of visual acuity. The most common pathology in this group is Stargardt disease, or juvenile macular dystrophy, with a prevalence of 1:10,000. Clinically it is characterized by the appearance of bronze-colored pigment deposits in the macula. Most of these cases are caused by recessive mutations in the ABC4A gene.

Pathologies


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

  • Bestrophinopathy

  • Bothnia retinal dystrophy

  • Doyne honeycomb degeneration of retina

  • Fundus Albipunctatus

  • Pigmented paravenous chorioretinal atrophy

  • Retinoschisis

  • Sorsby Fundus Dystrophy

  • Stargardt disease

  • Vitelliform macular dystrophy type I

  • Vitelliform macular dystrophy type II

  • Vitreoretinochoroidopathy


Genes analyzed


ABCA4, AHR, BEST1, C1QTNF5, CDH3, CERKL, CFH, CNGB3, CRB1, EFEMP1, ELOVL4, FSCN2, GUCA1B, IMPG1, IMPG2, IRX1, KCNJ13, PRDM13, PROM1, PRPH2, RAX2, RBP3, RDH12, RDH5, RLBP1, RP1L1, RPGR, RPGRIP1, RS1, TIMP3

Non-coding regions included: ABCA4 all introns, RPGRIP1 promotor

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 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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