We are all different and unique inside the genome. Cells inside our body hold the genetic instructions coded to the DNA-strand. The code is built using four bases – adenine, guanine, cytosine and thymine – and assembled together as a sequence. Based on this sequence is determined for example the unique color of your eyes, your height and ability to metabolize certain drugs. Read more about general genetics at GeneAccount blog.

In specific liver cells the instructions to metabolize drugs are activated in the sequence. The same sequence is present, yet inactive, in the buccal cells and this is why we can use simple buccal swab test to determine the function inside those liver cells.

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After the test swab has arrived in the laboratory, the cells are collected and degraded for DNA extraction. The DNA is then purified and amplified for the analysis, that is called genotyping.

Specific areas inside the sequence are known to have effect on drug metabolism. When you want to find out how a certain drug is metabolized, you look for different variations in this gene’s structure. One kind of variation causes the drug to metabolize faster and the other variation has the opposite effect. The third kind will ensure that the drug is metabolized as hoped using generic dosage.

Finding out the sequence of a single gene is called genotyping. The variations are often changes of a single base (single nucleotide polymorphism, SNP). In some cases the number of gene copies determine the metabolism of a drug. These copy number variants (CNV) can either speed up (multiplication of a gene) or slow down (deletions) the metabolism.

The DNA is amplified in a cyclic reaction, where fluorescence-labeled dyes attach to multiplying DNA. Each dye has it’s own specific variation in sequence to attach. After the reaction the fluorescence intensity of these dyes is detected, and based on it the different variations inside the gene are decided.

For SNP detection, ThermoFischer Scientific’s TaqMan® OpenArray® -platform is used. TaqManMGB® is used to determine copy number variants for certain genes.

GeneAccount Service -samples are handled and analyzed in European laboratories highly certified and accredited according to EU’s quality standards. These standards ensure the proper handling of samples and place demands on e.g. professionality of laboratory staff and quality assurances. The analyzation is always carried out using latest technology devices by professionals. This is how we ensure that the results of your gene test are always reliable.

The raw data obtained from the genotyping includes a massive amount of information on individual’s pharmacogenetic features. This information is interpreted to easy-to-read report using Abomics‘ state of the art technology. The data for interpretation is based on information Abomics Pharmacogenetic Database GeneRx and guidelines from U.S. Food and Drug Administration (FDA), Finnish Medicines Agency FIMEA, European Medicines Agency (EMA) and the latest research articles. The report and dosing recommendations are verified by specialized doctors.

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