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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.
How does the whole process work?
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.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, first fill out our personal and family history questionnaire HERE on our website. 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. 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. Do not forget to fill out online genetic family and personal history questionnaire before your visit, which you can find HERE.
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.