Amazing technological progress in molecular biology means it is now possible to identify genetic variations more quickly and cheaply than ever before. These analyses are now a common part of personalised medical care for thousands of patients in fields ranging from prenatal constitutional genetics (foetuses), postnatal constitutional genetics (new-borns, children and adults) and somatic genetics (tumours).
Eurofins Biomnis, as a medical biological laboratory, is authorised to perform genetic examinations as part of prenatal screening, prenatal diagnosis and to study the genetic makeup of an individual. In addition, the individuals performing these examinations are either certified by the biomedicine agency or have demonstrated expertise in the field. Finally, the analyses are subject to accreditation according to ISO15189.
The Human Genetics department has laboratories specifically designed for DNA analysis. These methods are derived from PCR (Polymerase Chain Reaction). The diagnostic strategies use a range of different methods, depending on the type of gene investigated: PCR using hydrolysis probes, PCR-RFLP, PCR-SSO, methylation-specific PCR, LAMP-PCR, the study of microsatellite markers or sequencing.
Eurofins Biomnis also uses cutting-edge technologies, namely SNP (Single Nucleotide Polymorphism) array or DNA chips and NGS (Next Generation Sequencing) or high-throughput sequencing.
- The SNP array technology uses a complete analysis of the genome to identify any gain (duplication, triplication, etc.) or loss (deletion) imbalances in the genetic material. These imbalances are also referred to as CNV (Copy Number Variation) and can be the cause of genetic diseases.
- High-throughput sequencing is able to simultaneously sequence millions of DNA fragments from a single sample.
- A sample can also be prepared so that only gene coding regions are sequenced, as in exome sequencing, or only for limited number of genes, as in panels. This means that high-throughput sequencing can be used to identify minute variations in nucleotides.
The everyday activities of the genetics department and its development projects are performed by a dedicated multidisciplinary team, consisting of expert technicians, scientific managers, bioinformatics specialists and clinical biologists.