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Diagnostic Services

What is ScoliGEN ?

ScoliGEN is a genetic test developed by EpiDisease S.L. (a diagnostic center authorized by the Valencian Regional Ministry of Health, license no. 22325) that evaluates the susceptibility to developing Adolescent Idiopathic Scoliosis (AIS).

This test is based on the analysis of 20 single nucleotide polymorphisms (SNPs), located in genes associated with the risk of onset and progression of the disease. A polymorphism is a variation at a single position in the DNA among individuals, with a frequency in the general population greater than 1%. A genotype is a classification of the type of variant present at a specific location (locus) in the DNA sequence. The combined analysis of the genotypes obtained through qPCR in the ScoliGEN test provides a risk value for AIS. The results of ScoliGEN do not change over time; therefore, the test can be performed at any point in the patient’s life without altering the outcome, even if no clinical symptoms of AIS are present, and it does not pose any health risks.

The test is performed through self-sampling from a saliva sample, which involves a non-invasive, less bothersome, and painless process. The results obtained with ScoliGEN, along with the specialist physician’s evaluation, provide more comprehensive information to address the onset or predisposition to AIS in a personalized and efficient way. The test result does not necessarily indicate the development of the deformity and must be assessed in a broader context, considering other clinical variables.

What is the basis for the result obtained with ScoliGEN ?

The ScoliGEN test is designed to genotype DNA samples using qPCR and to determine the genetic predisposition to developing AIS. It is not intended for use in other types of scoliosis-related disorders.

The genotyping of these variants in the samples is carried out using q PCR with TaqMan TM Genotyping Assays . The resulting genotypes are weighted into a polygenic risk score and, based on the results, are classified as high risk or low risk.

R&D Services

A simplified epigenetic clock We have developed AgingMETRIX, a simplified epigenetic clock based on the methylation pattern of a single gene, capable of estimating biological age. This tool is accessible and applicable in various clinical and research settings.

The Illumina EPIC array is a powerful tool for studying DNA methylation, a key epigenetic process in the regulation of gene expression.

Analysis with the Illumina EPIC array

This array allows the analysis of over 850,000 methylation sites in the human genome, providing a detailed view of how methylation patterns can influence health and disease. The applications of the EPIC array are diverse. It is used in research on cancer, cardiovascular diseases, neurological disorders, and in studies on development and aging. By identifying changes in methylation, researchers can gain insights into the epigenetic mechanisms underlying these conditions. In summary, the EPIC array not only facilitates the understanding of DNA methylation but also opens new doors in epigenetic research, helping to unravel how environmental and genetic factors interact to influence human biology.

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