Pharma Services Portfolio: Genotyping, SNP-, Mutation- and Biomarker-Analysis

Eurofins Medigenomix offers comprehensive genetic analysis of sample groups. Both single samples as well as batches of several thousand samples can be processed. For example, we offer genotyping in the scope of clinical trials, according to the principles of Good Laboratory Practice (GLP, German Chemicals Act and OECD Guidelines for GLP, No.1) and in accordance with the ICH Harmonized Tripartite Guidelines for Good Clinical Practice (GCP), (CPMP / ICH/135/95). Using state-of-the-art techniques like sequencing, mass spectrometry (MALDI) and TaqMan defined alleles and their underlying genetic polymorphisms of all pharmacogenetic relevant genes can be analysed, which encode e.g. for drug-metabolizing enzymes. In addition to the analysis of pharmacogenetic relevant genes (cytochrome P450, phase II enzymes, drug transporters, G-proteins and drug receptors), Eurofins Medigenomix offers also analysis of genes which play an important role in clinical diagnostics, e.g. genes for lactose intolerance / lactase persistence, for breast cancer or for progressive lung disease (alpha-1-antitrypsin (AAT)-deficiency).

Based on provided sample material, such as blood samples, tissue samples or buccal swabs, analysis will be performed. Genomic DNA extracted from samples represents the starting material for genetic analysis. Naturally, DNA provided by the customer can be directly used as a starting material.

During analysis the samples will be stored properly and safely at Eurofins Medigenomix. If the customer requests long-term storage of samples upon completion of analysis (biobanking), or if such sample storage is necessary due to regulatory requirements of GLP / GCP, then Eurofins Medigenomix offers professional sample storage via its sister company Eurofins Medinet, which ensures traceability of each sample.

Of course, we care likewise about the documentation of all genotyping projects either according to your requirements or in compliance with official provisions e.g. GLP/GCP-grade documentation including study plan and final report for analysis in the scope of clinical studies.

The assay portfolio of Eurofins Medigenomix covers amongst others analysis for the following pharmacogenetic relevant genes:

• Drug metabolizing enzymes, DMEs (Phase I enzymes/Cytochrome P450 enzymes, e.g. CYP2D6; Phase II enzymes, e.g. N-acetyl transferases)
• Drug transporters (Solute Carrier (SLC)- and ATP Binding Cassette (ABC)-transporters, e.g. organic cation transporters, OCTs, as members of the SLC family)
• Drug receptors (ligand controlled ion channels or class 1 receptors, e.g. glutamate receptor; G-protein coupled receptors (GPCRs) or class 2 receptors, e.g. ß-receptor; enzymatic receptors, e.g. insulin receptor; receptors regulating gene expression, e.g. steroid hormone receptor)
• G-proteins, e.g. GNAS1 or GNB3
  

According to our service policy, we actively support our customers in defining the questions which are important for their project development, enabling the customer to achieve his project objective in a quick, reliable and cost efficient way. Based on verified scientific data we develop an appropriate strategy for the different questions of the customer's project.
For example, we assist the customer in defining which genes are relevant for the respective project and to which extent these genes should be analyzed. Along with the customer we define, if only well-known alleles and polymorphisms of the respective gene shall be included into the analysis or if an analysis of the entire gene makes sense in order to detect likewise new polymorphisms.

At the end of this assessment of requirements the most suitable, project-specific analysis technique will be available.