A targeted approach
to genetic disorders
Our broad portfolio of tests allows us to study different genetic diseases with approaches tailored to each case
Genetic studies in nine medical specialties
We offer targeted exomes that encompass the genes of clinical interest in each pathology. In addition, we perform whole exome analysis for complex cases.
Our targeted exomes include genes associated or potentially associated, with sufficient scientific evidence, to the development of each disease and have been selected using clinical databases such as Orphanet, OMIM, HGMD and GeneReviews, among others, and disease-specific databases, if available.
We are experts in bioinformatics analysis of NGS data.
We work with our own pipelines and our Genome One software, which is CE-IVD marked.
We have more than 12 years of experience in the analysis of NGS data and we are specialized in genomics and transcriptomics.
Multiomic Analysis
Through supervised integrative analysis we help to identify the most important biomarkers
We can start from transcriptomic, proteomic and metabolomic data. We perform an individual analysis of each of the omics techniques used followed by the integrated analysis.
Blog & News
#IMMeeting "Rare diseases: more refined diagnoses, more specific treatments".
Yesterday we participated in the IMMeeting organized by IMMédico to talk about rare diseases, their diagnosis and treatment, together with Beatriz Perales, member of the board of IMMédico.
APADA Seminar: Hearing Loss and Genetics
Hypoacusis is the loss of hearing capacity, to a lesser or greater degree, which may be caused by environmental or genetic causes.
World Day for Neuromuscular Diseases
Today is World Day for Neuromuscular Diseases and we talked to our head of Clinical Genetics, Leyre Larzabal, to learn a little more about this day.