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Clinical exome
Genetic diagnosis of serious hereditary diseases
The most comprehensive genetic analysis that analyses approximately 4,500 genes that are associated with various inherited diseases and birth defects. It helps diagnose the cause of rare inherited diseases. Based on the results, a prognosis can be determined, a prevention or treatment strategy can be developed and the risk of recurrence of the same disease for blood relatives can be determined.
IN WHICH SITUATIONS IT IS APPROPRIATE TO TAKE THE TEST
DIAGNOSIS OF THE DISEASE
With an accurate diagnosis, the appropriate treatment can be chosen.
UNKNOWN CAUSE
It will make it possible to identify the cause and determine the prognosis of the disease.
FAMILY MEDICAL HISTORY
Family history of the disease or disability.
GENETIC COMPATIBILITY
You want to be sure before starting a family.
Examinations covered by the public health insurance are indicated by the attending clinical geneticist as pat of the genetic consultation on the basis of your personal and family medical history.
DETAILED INFORMATION
Genetic inherited diseases are caused by gene mutations that are passed on from biological parents as part of their genetic makeup. Some birth defects can be caused by de novo mutation, i.e. a random process in the germ cells of a healthy parent (sperm or egg), or they can occur in the early embryonic stage of fetal development.
There are 3 basic types of inheritance. An autosomal dominant type of inheritance, where the affected parent has a 50% risk that each of his or her children will be affected by the same disease. In autosomal recessive inheritance, both the parents are healthy carriers of the mutation and the risk of the disease for their child is 25%. In X-linked inheritance, it depends whether the disease is passed from a healthy mother to her son, in which case the difficulties usually manifest themselves, or from a healthy mother to her daughter, in which case the daughter becomes, like the mother, a healthy carrier of the disease.
With the Clinical Exome analysis, we can also detect de novo mutations and autosomal recessive diseases in clinically undiagnosed cases. Knowledge of the molecular genetic basis of a disease or disability allows for the determination of a preventive or therapeutic strategy. Based on the results of the analysis, genetic counseling is recommended to at-risk relatives to prevent recurrence of the disease in the family.
You will receive the result within 6 months.
HOW THE TEST WORKS AND WHAT YOU CAN EXPECT
After ordering the test as a private patient, you will receive an email with detailed information. A DNA sample is most often obtained through an oral swab or blood sample. You can perform the oral swab yourself in the comfort of your own home using a collection kit which will be sent to you by mail together with instructions and other documents. You can have your blood drawn at your local physician's office or at our outpatient clinic. The result of the analysis will be sent to you by e-mail or by post as agreed. In the case of a positive result, we recommend an appointment for a genetic consultation.
1.
Ordering
Choose a specific test or make an appointment for a genetic consultation.2.
Sampling
A sample of your DNA is most often obtained through an oral swab or blood sample.3.
Analysis
Our team of experienced professionals will analyse the sample using the latest methods and technologies.4.
RESULT
After the test has been evaluated, you will receive a detailed and easy-to-understand laboratory report, or a consultation with a clinical geneticist will be recommended.
GenScan® COMPLEX
GenScan® analysis is a modern tool for personalized prevention. It can detect the health risks hidden in your DNA, allowing you to take the necessary precautions to avoid the development of a disease or to start appropriate treatment before it occurs. With GenScan® analysis, you can get a head start on your health care, improve your quality of life and maintain your health into old age.
PharmaGen®
The PharmaGen® test detects variants in genes that affect the metabolism of commonly used drugs, particularly in the fields of psychiatry, neurology and internal medicine (blood thinners - warfarin, cholesterol-lowering drugs, painkillers - ibuprofen, antidepressants, erectile dysfunction drugs, etc.).
Our genetic predisposition influences the rate of drug breakdown, its concentration in the blood, the effectiveness of treatment and the risk of side effects. Simply put, genetic analysis can help you find out what medication is right for you and at what dose, and which drugs to avoid, which can significantly speed up the appropriate treatment and increase its effectiveness.
TromboGen®
The TromboGen® genetic analysis can detect innate predispositions to increased blood clotting and allows you to take the necessary preventive measures in time. Thrombosis is a blood clot that can cause serious health complications, in extreme cases even death. It is caused by slowed blood flow and/or altered blood composition due to the joint effects of external risk factors and hereditary predispositions.
BRCA1,2 Screen®
The BRCA1,2,Screen® genetic analysis examines the 34 most common mutations in the BRCA1 and BRCA2 genes which cause breast and ovarian cancer in women and increase the risk of prostate cancer in men. These genes are inherited independently of gender, so prevention is absolutely key across the population. This test is recommended for basic prevention, it is not a substitute for a complete BRCA1,2 gene test.
TromboGen Gravidity®
The TromboGen Gravidity® genetic analysis can detect risk predispositions for increased blood clotting, which can significantly contribute to reducing the risk of thrombosis and related pregnancy complications. Pregnant women are at risk of developing thrombosis, or a blood clot, much more than other women. This is due to the physiological changes that occur during pregnancy and possible hereditary dispositions.
Kardiogen®
The CardioGen® test can detect the risk of cardiovascular disease before the first clinical symptoms appear. Cardiovascular disease, or heart and blood vessel disease, is one of the so-called genetically determined diseases of affluence, the likelihood of which increases with age. Therefore, prevention plays a crucial role here.
DentalScan®
Periodontitis is an inflammatory disease of the supporting structure for the teeth called the periodontium. The cause is a combination of the presence of certain strains of bacteria in dental plaque and the immunological or genetic predisposition of the patient. The bacterial and genetic examination DentalScan® detects both of the above-mentioned risk factors for periodontitis, which can significantly contribute to early diagnosis, the selection of optimal treatment or the adoption of appropriate preventive measures.
Gut microbiome
The gut microbiome influences virtually the entire body, from nutrient digestion and energy absorption to immune system activity, liver function and risk of various diseases, and even the psyche. By genetically analysing a small stool sample in the laboratory, the types and amounts of bacteria that live in your colon can be determined. Together with an analysis of dietary habits, it is then possible to deduce what substances in the intestines are produced by the activity of the bacteria and how this affects the body. In addition, if we know what these bacteria need to multiply or what is not good for them, we can adjust the amount of bacteria in our gut through our diet. In this way, we can influence their impact on our body - and on our physical and mental health.
GenScan® Individual + gut microbiome + biochemical blood test (nutritional status)
Genetic testing reveals innate predispositions to disease and identifies how your body will respond to risk factors for these diseases, or what your body responds to to keep you healthy. Gut microbiome testing will show you if your gut bacteria are in balance and working with your body to maintain good immunity. In addition, the combination of these tests will tell you whether you are eliminating the risk factors hidden in your genes correctly. A biochemical blood test will reveal whether you are already developing certain risk factors and whether you are lacking certain essential nutrients.
GenScan® Individual + biochemical blood test (nutritional status)
Genetic testing reveals innate predispositions to disease and identifies how your body will respond to risk factors for these diseases, or what your body responds to to keep you healthy. A biochemical blood test will reveal whether you are already developing certain risk factors and lacking certain essential nutrients.
Gut microbiome + biochemical blood test (nutritional status)
An examination of your gut microbiome will show you whether your gut bacteria are in balance and working with your body to maintain a good immune system. A biochemical blood test will reveal whether you are already developing certain risk factors and whether you are lacking any essential nutrients.
TromboGen Plus®
The TromboGen Plus® genetic analysis can detect innate predispositions to increased blood clotting and enable you to take the necessary preventive measures in time. Thrombosis is a blood clot that can cause serious health complications, in extreme cases death. It is caused by a slowing of the flow and/or a change in the composition of the blood due to the interaction of external risk factors and hereditary predispositions.
Frequently Asked Questions
The time required for the laboratory examination (sample analysis) and the delivery date of the result vary according to the type and complexity of the examination. Usually it is in the order of weeks, for complex tests up to several months. The delivery date of the result is indicated in the details of each test on our website. In urgent situations, e.g. for a woman with a newly diagnosed breast or ovarian tumour before surgery, the oncopanel cancer test is performed in STATIM mode and the result is available within 3-4 weeks, whereas in normal mode it takes up to 6 months.
Health insurance always covers genetic consultations recommended by the attending physician (usually a general practitioner, paediatrician, oncologist, gynaecologist or other specialist). During the consultation, a clinical geneticist will assess whether the indication criteria for testing for the predisposition genes are met; if so, the entire genetic test, including laboratory analysis of the sample and subsequent consultation with the geneticist/doctor, is covered by health insurance. If the criteria for the genetic testing are not met, the patient can pay for the selected/recommended test as a self-payment.
After making an appointment, you will come to our office where you will first fill out a personal and family history questionnaire, or you can download it from here on our website and fill it out in advance, in the comfort of your own home. Remember to bring it with you afterwards. This is followed by a consultation with a doctor who will compile your three-generation family tree and decide on the indication for laboratory genetic testing. We also recommend that you bring medical reports from recent important examinations.
Recommendation - a referral from the doctor who recommended the genetic consultation. Alternatively, a completed genetic family and personal history questionnaire, which can be downloaded here. However, the questionnaire can also be completed after you arrive at our office. Medical reports from previous examinations related to the requested genetic test. It is not necessary to be fasting for the genetic examination, so you can easily make an appointment in the afternoon.
It has been reported that approximately 5-10% of cancers are caused by inborn changes in certain genes. One of the main goals of predictive genetic testing is the early identification of people at risk. If risk predispositions (gene mutations) are detected, preventive follow-up at specialised centres is recommended, where possible cancers are detected early and the chances of successful treatment are increased. In the case of high-risk mutations, preventive surgery may be recommended to make the risk of cancer in a given organ virtually impossible (for example, removal of the breast glands or removal of the uterus and ovary in BRCA1 or BRCA2 mutation carriers).
If your first-degree relative (parents, siblings, children) develops colon cancer before the age of 45, your risk of developing this cancer is 5 times higher. If you have three first-degree relatives, your risk can be as high as 50%. In families with a history of recurrent bowel cancer or with a history of bowel cancer at a young age, it could be hereditary cancer syndrome (Lynch syndrome). In such cases, genetic consultation is recommended.