At DBGen we diagnose every inherited eye disease, syndromic and non-syndromic, primarily those affecting the retina.

There are over 150 diseases that affect eyesight. Most are difficult to diagnose clinically because they exhibit similar symptoms. There are over 260 genes known to cause retinal dystrophies, and over 500 if all eye diseases are considered.

fast and reliable results
excellent diagnostic performance in difficult cases
ease of communication with patients, specialists and companies

Our results

Cone-rod dystrophy
Retinitis pigmentosa
Leber C Amaurosis
Prevalent diseases diagnosed
80% Diagnostic yield Exome
79% Diagnostic yield Specific panels

Methods we use

DBGen uses two genetic diagnostic strategies. The ultimate goal of both is to offer a conclusive and reliable genetic diagnosis that identifies the gene(s) responsible for the patient’s disease.

Gene panels
Used to focus the diagnosis toward genomic fragments in coding regions (exons) for genes that cause eye diseases. Our panels also include non-coding regions (introns and promoters) that have been shown to potentially host some pathogenic mutations. The DNA fragments studied are selected by specific probes designed by DBGen and sequenced on Illumina HiSeq 2000 platforms. The subsequent bioinformatic process can prioritize candidate genes and, in most cases, identify the gene causing the disease. When the eye disease is known and the clinical diagnosis leaves no margin for error, this strategy offers the best cost-to-benefit ratio. It should be noted that this genetic study does not identify new causative genes, large genomic rearrangements or genetic variants located in non-coding regions of the genome that were not previously included in the panel.

Exoma (WES)
Used to simultaneously sequence all of the coding regions (exons) of the patient’s genome (some 20,000 genes) on Illumina HiSeq 2000 platforms, and based on the sequences identified, to prioritize the genetic variants responsible for hereditary eye diseases. Bioinformatic prioritization relies on genetic and population criteria based on comparisons against databases for control populations. If the clinical diagnosis is not assured, an exome study is the most effective method for the genetic diagnosis, as it can be used to analyze every coding region of the genome simultaneously, and therefore identify new causative genes. However, this test cannot identify changes involving rearrangements of large segments of DNA, or genetic variants in non-coding regions (regulatory regions and introns) of the genome.

Based on its extensive research experience, DBGen can also perform additional tests to identify large genomic rearrangements, and functional tests of potentially pathogenic genetic variants. These studies will be carried out on demand, as will be regarded as research work.