Analysis of over 450 disease-causing genes that affect the optic nerve and the anterior and posterior segment of the eye.
16 specific gene panels associated with more than 50 ocular disorders.
Panels specifically designed to perform NGS analysis of all the coding, flanking exonic-intronic regions (NCSS Non Canonical Splice Sites) regions and the mutations located in internal regions of the introns (deep-intronic) of the genes specified in each panel.
Whole Exome Sequencing (WES) (>90x; Sequencing Gb read length 2×100, NovaSeq 6000) of all coding regions of the genome for the identification of mutations in genes not included in the panels.
Whole Genome Sequencing (WGS) (>30X; Sequencing Gb read length 2×100, NovaSeq6000) of all coding and non-coding regions of the genome to identify large genomic rearrangements, copy number variants (CNVs) of specific sequences, and pathogenic variants located in deep-intronic regions.
Sanger sequencing for the validation of putative pathogenic variants and, in specific cases, to identify and locate low-covered regions of candidate genes.
Bioinformatic analysis for the identification and annotation of the variants according to the CNAG-CRG pipeline (National Center for Genomic Analysis-Center for Genomic Regulation, Barcelona) and subsequent filtering for the prioritization of the genetic variants selected using in house scripts based on the expertise and deep experience of the DBGen team.
Availability of functional studies on demand to demonstrate the pathogenicity of novel variants.
On demand reanalysis service to identify new genetic variants with clinical relevance to complement a previous diagnosis.
Personalized genetic counseling to the proband and relatives. More info.
Updated information on gene therapies in advanced clinical phases and those already available.