Customized assessments based on your patients' clinical needs
With this service, we tailor our approach entirely to your needs, allowing you to analyze the genes of your choice for each case
A targeted study of disease-associated genes
Our broad portfolio of tests allows us to study different genetic diseases with approaches tailored to each case
A valuable tool in the diagnosis of heterogeneous genetic disorders
Whole-exome sequencing enables the identification of new clinically significant genes and the detection of new variants or genes associated with the disease that have not yet been described
The best diagnostic tool for complex cases
Whole-exome sequencing of trios facilitates the identification of variants relevant to complex genetic diseases, providing the highest diagnostic yield currently available
Genetic studies in ten 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 exome tests include genes that have been selected using clinical databases such as Orphanet, OMIM, HGMD, and GeneReviews, among others, as well as disease-specific databases, where available.
We are experts in NGS data analysis
We work with our own pipelines and our Genome One software.
We have 14 years of experience analyzing data from next-generation sequencing (NGS) and specialize in genomics and transcriptomics.
NGS sequencing
We use laboratory equipment and reagents with CE-IVD marking.
We offer a comprehensive service, including DNA and RNA extraction, quality control, library preparation, and NGS sequencing on MGI and Illumina platforms
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