Services
The DBGen genetic tests analyze over 450 disease-causing genes causing vision disorders, including those that affect the optic nerve and the anterior and posterior segment of the eye.
Results
DBGen delivers a detailed genetic report that includes the identified genetic variants and genetic counseling.
This information is based on exhaustive bibliographic and database reviews studies, on the analysis of databases and, especially, on the team’s experience backed by more than 30 years of research into the genetics of hereditary vision diseases. The high degree of specialization of the DBGen team guarantees a high diagnostic efficiency (>80%) providing relevant data for differential clinical diagnosis. The delivery time for the report is between 12 and 14 weeks.
Fast and reliable results
Excellent diagnostic performance in difficult cases
Ease of communication with patients, specialists and companies
Methodologies we use
DBGen uses three strategies, gene panels, WES and WGS, for genetic diagnosis based on automated DNA sequencing on NovaSeq 6000 Sequencing System (Illumina) platforms, specially designed for this type of high-throughput analysis. The final objective is to offer an accurate and reliable genetic diagnosis, identifying the gene(s) responsible for the patient’s pathology.
20 gene panels specifically designed for NGS analysis of all coding regions, exon-intron flanking regions (NCSS Non Canonical Splice Sites) and mutations located in deep-intronic regions of the genes detailed in each panel.
(Sequencing Gb read length 2×150, NovaSeq6000 SP-2D lane)
Validation of pathogenic variants.
All DBGen panels offer a cosegregation study in parental samples.
Verification of mutations diagnosed in relatives.
Simultaneous sequencing of all the coding regions (exons) of the patient’s genome, about 20,000 genes (>90x; Sequencing Gb read length 2×150, NovaSeq6000 S4).
When the clinical diagnosis is not certain, the study of the exome is the most effective methodological strategy for genetic diagnosis, since it allows the simultaneous analysis of all the coding regions of the genome and the identification of new causative genes.
Personalized meeting that can be requested before or after receiving the genetic diagnosis to explain in a rigorous and updated way the pathology that affects your family, the benefits and limitations of the study and the possible steps to follow.
Simultaneous sequencing of all coding (exons) and non-coding (introns and regulatory regions) regions of the patient’s genome (>30X; Sequencing Gb read length 2×150, NovaSeq6000 S4).
It is the ideal strategy for the identification of large genomic rearrangements, copy number variations (CNVs) and mutations located in the internal regions of the introns.
Based on its long research experience, DBGen can also perform additional studies for the identification of large genomic rearrangements and functional assays of putative pathogenic variants. These studies are performed on demand and are considered research projects.