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Whole Exome Sequencing (WES)

Allows for the simultaneous, automated, fast and accurate sequencing of all the coding regions (exons) of the human genome (approximately 20,000 genes, representing 1% of a human’s DNA) with an average coverage over 90x. Then, using bioinformatics programs, any genetic variants found in the genes that cause hereditary eye diseases are noted and analyzed. These regions contain 85% of the pathogenic mutations described as causing hereditary pathologies in humans.


Below is a listing of principal eye diseases that we diagnose by studying the exome:

  • Anophthalmia

  • Anterior segment dysgenesis

  • Biotinidase deficiency

  • Blepharophimosis syndrome

  • Branchiooculofacial syndrome

  • Brittle cornea syndrome

  • Catarats

  • Charcot-Marie-Tooth disease

  • Ched corneal endothelial dystrophy

  • Chediak-Higashi syndrome

  • Coloboma

  • Congenital stromal corneal dystrophy

  • Corneal disease

  • Donnai-Barrow syndrome

  • Duane-radial ray syndrome

  • Ectopia lentis

  • EEC syndrome

  • Fehr corneal dystrophy

  • Fleck corneal dystrophy

  • Fraser syndrome

  • Fuchs' Endothelial Dystrophy

  • Gelatinous drop-like corneal dystrophy

  • Groenouw corneal dystrophy

  • Heimler syndrome

  • Keratoconus

  • Lattice dystrophy type I

  • Leber hereditary optic neuropathy

  • Lenz microphthalmia syndrome

  • Lowe syndrome

  • Macular dystrophy

  • Meesmann corneal dystrophy

  • Megalocornea

  • Microftalmia

  • Neuronal ceroid lipofuscinosis

  • Oculoauriculovertebral spectrum / Hemifacial microsomia

  • Oculodentodigital dysplasia

  • Oculofaciocardiodental syndrome

  • Optic neuropathy

  • Oral-facial-digital syndrome

  • Peters plus syndrome

  • Posterior polymorphous corneal dystrophy

  • Progressive external ophthalmoplegia

  • Reis-Bucklers corneal dystrophy

  • Retinal dystrophy syndrome

  • Retinal vasculopathy

  • Schnyder corneal dystrophy

  • Warburg micro syndrome

  • Wolfram syndrome

  • Xeroderma pigmentosum

  • Zellweger spectrum disorder

Apart from these, all the pathologies included in the Complete Panel can also be studied with this test.

Regions analyzed

All coding regions of the genes in the human genome (approximately 20,000 genes), with special emphasis on genes previously associated with genetic pathologies. The mitochondrial genome is also fully sequenced and analyzed.

Recommended for

This test is recommended when the clinical diagnosis indicates an eye disease that is not included in the full panel, or when the patient’s clinical diagnosis is unclear.

By studying the exome, the number of genes analysed greatly exceeds those included in the Complete Panel of Retinal Dystrophies and other eye diseases. From this approach new causative genes can be characterized, thereby expanding the genetic basis of eye diseases.


From €1490. Please contact us to know the options that best suit your needs.


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.


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 analysis 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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