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Predictive testing for mutations in the family
High-risk gene mutation in the family
Genetic analysis of high-risk mutations in hereditary cancer genes, especially suitable for relatives (parents, siblings, children) of a person with a high-risk mutation or who has been diagnosed with cancer. It will allow you to find out if you are at risk of developing cancer. Based on the results of the analysis, you will be recommended for preventive monitoring and, if a risk mutation is found, genetic testing will be recommended for other blood relatives at risk. If a member of your family has been diagnosed with a risk predisposition (gene mutation), the test is covered by public health insurance.
HEREDITARY BREAST AND OVARIAN CANCER
Proven mutation in the family.
LYNCH SYNDROME
Proven mutation in the family.
LI-FRAUMENI SYNDROME
Proven mutation in the family.
FAMILIAL ADENOMATOUS POLYPOSIS
Proven mutation in the family.
PUBLIC HEALTH INSURANCE COVERS THE TEST IN THE FOLLOWING SITUATIONS
For blood relatives of a person with a risk mutation, the test is always covered by public health insurance.
DETAILED INFORMATION
The inheritance of predispositions in cancer is autosomal dominant, which means that it is passed on to each offspring with a 50% probability regardless of sex. If the mutation is not detected in the person tested - he or she did not inherit it - transmission to his or her offspring is no longer possible. Genetic counselling in the family and the possibility of predictive testing for blood relatives of a person with a risk predisposition are equally important.
In case of mutation detection, appropriate preventive care is recommended to ensure early diagnosis of possible cancer, and preventive surgery may be recommended for women with high-risk predisposition alleles (BRCA1/2, PALB2 genes). For people with a hereditary risk predisposition who are of fertile age, it is possible to carry out preimplantation diagnostics in the context of IVF and to prevent the transmission of the risky disposition to the next generation by selecting a suitable embryo.
Genetic analysis “Predictive mutation screening in the family” detects especially high-risk mutations of hereditary cancer predisposition genes (such as BRCA1, BRCA2, PALB2, TP53, CDH1 MLH1, MSH2, MSH6 and others). The test is recommended for relatives of the person with the high-risk mutation and is always covered by public health insurance. It is necessary to make an appointment for a genetic consultation in advance.
You will receive the result within 3 months.
HOW THE TEST WORKS AND WHAT YOU CAN EXPECT
After ordering the test, 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 case of a positive result, we will arrange a consultation with a clinical geneticist who will explain everything and recommend appropriate measures.
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, 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.