Expanded Carrier Screening: Learn Your Genetic Risk Together Before Pregnancy
Expanded Carrier Screening is a comprehensive genetic test that determines, before pregnancy, whether you and your partner are carriers for hundreds of recessive hereditary conditions.
In short: most carriers show no symptoms at all — but if both partners carry the same condition, the risk of passing it to their child rises significantly. This test reveals that risk before pregnancy begins.
What Is Expanded Carrier Screening?
Many hereditary conditions, such as thalassemia, cystic fibrosis, and spinal muscular atrophy, follow a recessive inheritance pattern — meaning a mutation must be inherited from both parents in the same gene for the condition to appear. Carriers are typically healthy and may have no family history of the disease at all.
Expanded carrier screening uses next-generation sequencing to examine hundreds of genes at once, identifying shared conditions for which both partners are carriers. Results are interpreted by clinical genetics specialists, providing couples with scientific guidance for family planning.
How Does the Testing Process Work?
• A blood or saliva sample is collected from both partners.
• Samples are screened for genes linked to hundreds of hereditary conditions using next-generation sequencing.
• Results are compared to identify any shared genetic risks carried by both partners.
• A clinical genetics specialist reviews the findings with the couple in detail.
• If a risk is identified, family planning options — such as PGT-M with embryo selection — are discussed to help manage it.
Who Should Consider This Test?
Expanded carrier screening is an important step for all couples planning a pregnancy; couples with consanguinity; those with a family history of hereditary disease; and anyone who wants a scientific assessment of their genetic risk before having children.
Expected Clinical Outcomes
• Identification of shared hereditary conditions carried by both partners, before pregnancy
• Scientifically grounded, informed decision-making support for family planning
• Evaluation of preventive options such as PGT-M if a shared risk is identified
• Comprehensive guidance for couples through genetic counseling
Why Choose Turkey for This Service?
Turkey's genetic diagnostics centers offer extensive carrier screening panels backed by international laboratory partnerships and experienced clinical genetic counseling.
• A clear cost advantage compared to similar carrier screening panels in the US and Western Europe
• Broad, next-generation-sequencing-based panels covering hundreds of genes
• Seamless access to PGT-M and IVF services at the same center if a shared risk is identified
• Detailed, easy-to-understand results counseling with clinical genetics specialists
• Comprehensive health tourism support organized for international couples
Frequently Asked Questions (FAQ)
Should I still be tested if there's no hereditary disease in my family?
Yes. Carriers typically show no symptoms and can exist without any known family history. That's why this test is recommended for all couples, regardless of family history.
What happens if both partners are carriers of the same condition?
In that case, the mathematical risk of passing the condition to a child is calculated, and a clinical genetics specialist discusses risk-management options with the couple, such as embryo selection through PGT-M.
How long does it take to get results?
The next-generation sequencing analysis process is typically completed within 2–3 weeks.
When should this test be done?
Ideally, it should be done before pregnancy is planned, so that family planning options can be considered in time based on the results.
Do I need to travel to Turkey for this test?
In some cases, sample collection can be arranged in your home country. Comprehensive support is available for those who wish to travel to Turkey for results counseling and any further treatment planning.
This content is for informational purposes only; it does not diagnose, recommend treatment, or guarantee results. Be sure to consult a doctor for a personalized evaluation.