Preconception Testing
The best care for your child's health starts before conception. Preconception genetic testing is a set of preventive examinations for couples who are planning a pregnancy and want to do everything they can for their future child. It can reveal hidden genetic risks that may not show up in either of you, but could affect the health of your child.
At the Gennet Centres for Medical Genetics in Prague and Liberec, our experienced team and modern laboratory let us assess genetic risk accurately and design preventive measures to protect the health of your future family.
What Preconception Genetic Testing Usually Includes
Depending on your situation, the geneticist may recommend several types of testing. At Gennet we offer the full range of modern methods.
- Clinical genetic assessment. A review of the personal and family medical history of both partners as part of the genetic consultation.
- Chromosome testing in both partners. Chromosomes are structures in the cell nucleus, visible under a microscope, that carry genetic information organised into genes.
- In women, testing for predispositions to increased blood clotting — thrombophilic mutations such as factor V Leiden (gene F5) and the prothrombin mutation (gene F2), and other inherited factors that influence response to assisted reproduction and the course of pregnancy (for example the M2 risk haplotype of the ANXA5 gene, which raises the risk of pregnancy loss).
- Screening for hidden carrier status of genetic changes, that is, mutations that can cause recessive conditions in the children of carriers. In our population, the most common are cystic fibrosis (CF) and spinal muscular atrophy (SMA). Our CarrierTest analyses a full panel of genes, including others that are common in the population and clinically serious, for instance hearing loss, vision disorders, and selected metabolic conditions.
- In men with a serious sperm production disorder, testing for losses of genetic material on the Y chromosome, namely microdeletions in the azoospermia factor (AZF) region.
The results of preconception testing make it possible to design an optimal plan of treatment with assisted reproduction. Where appropriate, we can decide whether preimplantation genetic testing (PGT) is the right step toward a healthy pregnancy.
CarrierTest. Genetic Testing for Future Parents
CarrierTest reveals invisible inherited risks that you should know about when planning a family. It is intended for anyone who wants to actively prevent serious genetic conditions in their children.
- About 1 in 500 newborns whose parents have no obvious symptoms is born with a serious autosomal recessive (AR) or X-linked condition.
- As many as 1 in 35 people carry a mutation in the SMN1 gene that leads to spinal muscular atrophy, a serious disorder of the nervous system that causes progressive muscle weakness.
- Roughly 1 in 27 people is a carrier of hereditary deafness (mutations in the GJB2 gene).
- Cystic fibrosis is one of the most common recessively inherited conditions in Europe. About 1 in 25 people carries a mutation in the CFTR gene.
Who Is CarrierTest For?
- Any couple before starting a family.
- Anyone with the following indications:
- infertility
- recurrent miscarriage or repeated unsuccessful IVF
-A personal or family history of an inherited condition in either partner.
-Consanguineous relationships.
-IVF programmes using a donor.
The full list of conditions tested is available on the GNTlabs by Gennet website.
How Recessive Conditions Develop
If a person carries one healthy and one mutated copy of a gene in their DNA, the recessive condition does not show up. The healthy (dominant) version of the gene does its job and covers for the mutated (recessive) copy.
In that situation the person is simply a carrier, and is often unaware that the mutation is there at all.
CarrierTest Identifies the Gene Mutations You Carry
We carry two sets of genes. Your DNA is packaged into structures called chromosomes. You have 23 pairs of chromosomes in total (46 individual chromosomes). Half come from your mother, half from your father.
- 22 pairs are autosomes (non-sex chromosomes), which carry the genes for most of your traits.
- 1 pair are gonosomes (sex chromosomes):
- Almost everyone carries at least one copy of a mutated gene in their DNA among the roughly 4,000 known autosomal recessive conditions.
- That makes them a carrier. The condition does not show up; they are healthy, but they can pass the mutation on to their children.
What the CarrierTest Report Contains
- Carrier status for mutations in 150 genes linked to serious conditions in offspring.
- Mutations in a panel of genes that increase predisposition to blood clotting (thrombophilic profile).
- Response to hormonal infertility treatment (polymorphism in the FSH receptor gene).
What the Test Tells You and Why the Results Matter
CarrierTest is reassurance for your future family.
It shows whether you are a carrier of mutations associated with hereditary conditions.
- If both partners are tested, you also receive an assessment of genetic compatibility as a couple, free of charge.
- Each partner gets their own report, plus a joint report on the couple's reproductive risk.
What Are the Possible Outcomes for a Couple?
The results fall into three categories:
01 — No mutation detected in either partner
The risk of the child being affected (residual risk) by the conditions tested is very low and is essentially ruled out.
02 — Carrier status for a given gene found in only one partner
The risk of the child being affected (residual risk) for that condition is low.
03 — Both partners are carriers of a mutation in the same gene
The risk of the child being affected by that condition is significantly increased (25%, or 1 in 4).
If the test results show a reproductive risk, the geneticist will explain the available options at the consultation:
- Assisted reproduction with embryo testing (PGT-M) can be offered as a preventive route.
- A genetically healthy embryo can then be selected for transfer to the uterus.
- Another option is invasive prenatal testing during pregnancy (chorionic villus biopsy or amniocentesis).
Even for couples with a confirmed risk, we can help them have a healthy child.
Cost and Insurance Coverage
Is It Covered by Health Insurance?
Yes, when:
If the indication criteria are met (for example, when an inherited condition runs in the family), some preconception genetic tests are covered by health insurance on the basis of a recommendation from a clinical geneticist. The cost of tests that are not covered depends on their scope. We will always explain all costs and reimbursement options in detail and transparently during the initial consultation. Current self-pay prices are available in our price list.
Frequently Asked Questions (FAQs)
Take the first step toward a healthy family. Plan with confidence. Our team at the Gennet Centres for Medical Genetics in Prague and Liberec is here to help.
When is the best time for preconception screening?
Ideally anytime before you actively begin trying to conceive. The sooner you know your possible risks, the more time you have to make informed decisions.
How to prepare for the screening?
No special preparation is needed. Simply schedule a consultation. It is helpful if you collect as much information as possible in advance about the health status of your blood relatives and bring a completed pedigree questionnaire.
How long does it take to get results?
The evaluation time depends on the scope of the tests. CarrierTest results are usually available within a few weeks.
What is the cost of CarrierTest?
You can find the current test price in our price list. Given the breadth of gene coverage, this is an investment in your future family’s health.
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A genetic consultation will help you better understand your health situation, family history, and possible hereditary factors. Our specialists will provide expert advice and recommendations for next steps.
