The first step for family planning
Genetic testing can be used to help couples find out if they carry and are therefore at risk of passing on to their children diseases such as cystic fibrosis, sickle cell anaemia, spinal muscular atrophy, hereditary deafness, Tay-Sachs disease and others such as cancer, cardiac and neurological syndromes. Ideally, both parents should be tested so that the test can provide information about the couple’s likelihood of having a child with a serious genetic condition.
If a genetic variant in a common gene is found, the couple can choose management options so that the child is born without the specific variant, avoiding the development of the associated inherited syndromes.
It is estimated that 1 in 3 people are carriers of an inherited pathogenic gene variant with no symptoms or visible features, but the person is a carrier of the variant. In these cases, we say that the variant is inherited in the autosomal recessive or sex-linked way.
These individuals have inherited from their parents a normal and a variant copy of a gene responsible for a trait or genetic disease and, while they do not show symptoms of the disorder, they are at serious risk of passing on the variant copy to their offspring.
Oikogene® test helps identify couples who are at risk of passing on a specific genetic disease to their children with a 25-50% chance, leading to more informed decision-making before conception.
It is a diagnostic test that allows an extended analysis of inherited genetic diseases, including those most common in the Greek population, such as thalassemia, sickle cell anemia, cystic fibrosis, hereditary deafness, spinal muscular atrophy and fragile X syndrome.
It includes testing of approximately 900 genes, diagnostically covering 109 of the 113 genetic diseases recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) (PMID: 34285390). It concerns diseases characterised by onset in early childhood and/or infancy and the onset of severe symptoms.
Oikogene Pro® is a diagnostic test, which includes the ≈900 genes of the Oikogene® test and an additional 181 or more genes (up to 3,000 genes), which are modulated according to the couple’s family history.
The test is mainly recommended in cases where there is a history of cancer, cardiac or neurological syndromes.
These are diseases for which there are guidelines for their medical management, so preventive measures can be taken to improve a person’s life expectancy and quality of life. It is estimated that 1 in 200 people are predisposed to a cardiac genetic disease and 1 in 300 people are predisposed to a cancer syndrome.
All women/couples who are planning to have or expecting a child, and who want to reduce the risk of transmitting an inherited genetic disorder
All women/couples who intend to have a child, either through natural conception or medically assisted reproduction (IVF)
To couples following a cycle of medically assisted reproduction using donor sperm or donor eggs, to exclude the possible transmission of donor/donor variants
These tests are designed to achieve maximum sensitivity and specificity. Sequencing is performed through the DNBSEQ-G400 MGI platform using advanced Next Generation Sequencing (NGS) technology for the complete analysis of the genes under study.
In addition, special techniques are used to control spinal muscular atrophy and fragile X syndrome.
Required sample
2 Peripheral blood vials (EDTA)
Results delivery time
3-4 weeks
The gene test iGenome analyses the entire human genome, increasing up to 2 times the chances of diagnosing hereditary genetic diseasesThe analysis includes not only the known protein-coding genes but the entire genome, including non-coding regions that are critical for gene expression and regulation.
More specifically, the test aims to detect variants in genes that are widely known to be associated with various genetic diseases, as well as variants found in less well-mapped gene regions.
Compared to other, more targeted tests, it offers a higher diagnostic yield, as it also highlights variants in parts of the genome that do not encode proteins. In addition, it detects missing and duplicated gene regions more reliably,
Therefore, it can help to elucidate phenotypes that remain undiagnosed even with the application of existing diagnostic tools.
In addition, iGenome is offered for pharmacogenetic analyses
Pharmacogenetic testing allows the selection of an appropriate drug based on the DNA of the subject. In addition to the above screening, full genetic testing for thrombophilia, which has been associated with late miscarriages and various complications of pregnancy, such as severe pre-eclampsia, fetal growth retardation and fetal death, is included in the above screening.
Other genetic analyses do not provide information on drug metabolism, as drug-related polymorphisms are often located in regulatory regions that are not analyzed by conventional methodologies, which only test the coding regions of genes.
Continuous monitoring of stored data of the examinee
Our knowledge about the contribution of DNA to hereditary diseases is constantly increasing. A genetic test that may not be informative today may explain a disease in the future. It is therefore an importantadvantage that the resulting genetic data can be stored and reviewed whenever necessary using artificial intelligence and incorporating information from new scientific developments to find any new genetic regions or changes associated with inherited diseases. The test iGenome offers this advantage with automatic re-testing of the data and/or at the test taker’s request.
Pre- and post-test genetic counselling by a clinical geneticist and/or genetic counsellor is recommended to explain the possibilities and limitations of genetic testing and to better understand the results.
To all women/couples planning to have a child, either through natural conception or medically assisted reproduction (IVF)
To couples following a cycle of medically assisted reproduction using donor sperm or donor eggs, to exclude the possible transmission of variants to the donor.
To all women/couples who are planning to have or expecting a child, and who want to reduce the risk of transmitting a hereditary genetic disorder.
At Genekor, genetic counseling is provided free to all examinees by qualified genetic counselors.
a clinical team of clinical geneticists
Required sample
3 Peripheral blood vials (EDTA)
Results delivery time
4 weeks
For more scientific information please contact: scientific.support@genekor.com
In how many days are the results for Oikogene® & Oikogene Pro® ready?
Results are ready for the Oikogene® & Oikogene Pro® tests in 3-4 weeks.
In how many days are the results for the iGenome test ready?
The results are ready for the iGenome® test in 4 weeks.
What type of sample is needed for the Oikogene & Oikogene Pro tests?
You will need 2 vials of EDTA with blood.
What type of sample is needed for the iGenome® test?
You will need 3 vials of peripheral blood (EDTA)
Does any public/private insurance cover the test?
For cost coverage and related information, please contact customer service of Genekor.
How do I make the payment for the test?
Payment can be made by bank transfer or debit/credit card
How do I send the sample and receive the results?
Regarding the receipt of the sample, please get in touch with the secretariat. The results are shared with your doctor and with you via email.
Our Customer Service Team is committed to answering your questions about the services offered by Genekor. If you are interested in any of the tests offered by Genekor, please contact us directly.
*To complete the test, you are required to complete and send the Consent form that you will find on the link below.
*For more information on scientific content please contact: scientific.support@genekor.com
*Download the promotional brochure here.