REPRODUCTIVE GENETICS

REPRODUCTIVE GENETICS

Reproductive genetics allows to minimize the risks in family planning. Genetic analysis can be used to determine whether one or both of a couple carries a risky hereditary disposition that could cause serious diseases or birth defects in their offspring. It can clarify the cause of infertility or repeated miscarriages.

Common birth defects caused by gene mutations include spinal muscular atrophy, cystic fibrosis, some types of mental retardation and many others. If both members of a couple are carriers, the risk of certain diseases (cystic fibrosis, spinal muscular atrophy, etc.) to their offspring is up to 25%. In some cases, if the mother is the carrier, the risk is up to 50% (e.g. haemophilia, FRAXA syndrome), especially for boys.

Couples who have a family history of congenital developmental defects or hereditary diseases and want to avoid the risk of having a child with a genetic condition should have a reproductive genetic analysis before trying to conceive. The examination is also very suitable for couples dealing with infertility and repeated pregnancy losses.

ReproScreen

A genetic analysis of 27 of the most common recessively inherited diseases including cystic fibrosis, non-syndromic deafness, Smith-Lemli-Opitz syndrome, phenylketonuria, spinal muscular atrophy, and others caused by gene mutations inherited from healthy carrier parents. The analysis also includes detection of thrombophilic mutations that are associated with the risk of thrombosis, pregnancy complications and losses, an analysis of genetically determined fertility disorders in both men and women, and genetically determined disorders in the folate cycle.

Preventive screening is suitable for couples who want to minimize the risk of having offspring with a genetic condition, are planning to undergo or have already unsuccessfully undergone IVF cycles, have had repeated spontaneous abortions, and for couples with a family history of congenital developmental defects or mental retardation. Genetic analysis is performed on a blood sample or oral swab.

ReproScreen

7 500 Kč

Karyotype - G-banding

Testing for chromosomal changes that can cause infertility in men, repeated spontaneous abortions in women and congenital developmental defects in their offspring. The most common chromosomal defects include Down syndrome, Edwards syndrome, Turner syndrome, Patau syndrome, etc.

The examination is recommended in case of suspicion of the presence of congenital chromosomal aberrations in the patient, the occurrence of congenital developmental defects in the family and for sterile or infertile couples. The analysis is carried out on a sample of blood taken from the fetus; if a chromosomal defect is suspected in the fetus, the examination must be indicated by a clinical geneticist, in which case the sample is taken from amniotic fluid or chorionic villi at a specialised centre.

You will receive the result within 15– 20 working days.

Karyotype - G-banding

6 000 Kč

Pregnancy after cancer treatment

An examination aimed at evaluating acquired chromosomal abnormalities that may occur as a result of exposure to harmful physical, chemical or biological influences. These can cause temporary or permanent genetic changes at the level of genetic information stored in our DNA.

The most common harmful influences include exposure to chemicals, radiation, and viral infections such as measles, rubella, smallpox, etc. The use of cytostatics and immunosuppressants is also a risk factor. The repeated finding of an increased number of damaged cells means an increased risk of cancer, a risk of faster cell ageing and an increased risk of congenital developmental defects in offspring. The analysis is carried out on a sample of blood taken.

You will receive the result within 20 working days.

Pregnancy after cancer treatment

3 000 Kč

HOW DOES THE WHOLE PROCESS WORK?

HOW DOES THE WHOLE PROCESS WORK?

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 the case of a positive result, we recommend an appointment for a genetic consultation. 

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.
By phone at 800 390 390 or 234 280 280, by e-mail at info@ghcgenetics.cz.
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.

Do you have a question or don't know which test to choose?

Call us at 800 390 390 or contact us and we'll be happy to help.