Spectacular technological advances in molecular biology have made it possible to detect genetic variations more quickly and at a lower cost. These analyses are now carried out daily for personalised medical care for thousands of patients in various sectors, including prenatal constitutional genetics and postnatal constitutional genetics (the study of foetuses and newborns, children and adults, respectively) and somatic genetics (the study of tumours).
As a medical biology laboratory, Eurofins Biomnis has the necessary authorisations to carry out genetic tests in the categories of prenatal screening, prenatal diagnosis, and the study of an individual's genetic characteristics. In addition, the practitioners performing these tests have been approved by the French Biomedicine Agency or have demonstrated their competence. Finally, the analyses are accredited according to the ISO 15189 standard.
The human genetics department has specific premises adapted to DNA analysis techniques. The methods used involve PCR (polymerase chain reaction). Depending on the gene under study, diagnostic strategies are based on the following methods: PCR with hydrolysis probes and PCR-RF.
In addition, the Eurofins Biomnis laboratory is equipped with the latest Single Nucleotide Polymorphism (SNP) or ‘DNA chip’ and Next Generation Sequencing (NGS) or ‘High Throughput Sequencing’ technologies.
- SNP-array technology provides a thorough analysis of the genome, identifying imbalances in genetic material such as duplications, triplications or deletions. These imbalances, also known as copy number variations (CNVs), can cause genetic disorders.
- High-throughput sequencing enables millions of DNA fragments from the same sample to be sequenced simultaneously.
- Samples can also be prepared so that only the coding regions of genes or a limited number of genes are sequenced, as in exome or gene panels sequencing. High-throughput sequencing then enables subtle variations at the nucleotide level to be identified.
A dedicated multidisciplinary team composed of expert technicians, scientific managers, bioinformaticians and biologists carries out the daily activities of the genetics department and its development projects.