Pre-Marital Genetic Screening + Genetic Counseling
Comprehensive genetic screening for couples before marriage
What is this test?
Pre-marital genetic screening identifies whether you and your partner silently carry genetic conditions that could be passed to your future children. This is especially important in Central Asia and the Middle East, where consanguinity (marriage between relatives) is more common and significantly increases the chance that both partners carry the same recessive condition. Our screening includes testing for hundreds of conditions combined with expert genetic counseling to help you understand your results and plan for a healthy family.
Key Benefits
Most carriers are completely healthy with no symptoms — screening reveals risks that would otherwise be invisible until an affected child is born.
Consanguineous couples share more DNA, meaning they are more likely to both carry the same recessive condition. Screening is particularly important in this context.
Knowing carrier status before conception provides the widest range of reproductive options, including PGT-M, donor gametes, or enhanced prenatal monitoring.
Every result includes a session with a certified genetic counselor — you never receive results without professional guidance on what they mean for your family.
How It Works
A blood sample is collected from each partner. Both can be collected at the same appointment.
DNA is extracted and screened across hundreds of genes associated with autosomal recessive and X-linked conditions using targeted NGS on the Illumina platform.
Detected variants are classified according to ACMG/AMP guidelines by our molecular genetics team.
Results from both partners are analyzed together to identify shared carrier status — the scenario that creates reproductive risk.
A certified genetic counselor reviews results with the couple, explains carrier status, calculates risk for each condition, and discusses reproductive options if an at-risk pairing is identified.
Who should consider this test?
- All couples planning to get married, especially in regions with higher consanguinity rates
- Consanguineous couples (related by blood) — who have substantially higher shared carrier risk
- Couples with a family history of genetic conditions, intellectual disability, or birth defects
- Individuals from populations with known high carrier frequencies (Mediterranean, Middle Eastern, South Asian, Ashkenazi Jewish)
- Couples who want genetic peace of mind before starting a family
Accuracy & Clinical Evidence
Panel-based NGS achieves >99% analytical sensitivity for the targeted conditions. Carrier detection rates vary by condition and population, but expanded panels identify at-risk couples missed by traditional ethnicity-based screening.
Pre-marital genetic screening programs have been implemented in multiple countries and have dramatically reduced the incidence of conditions like thalassemia and sickle cell disease. Population studies demonstrate that expanded carrier screening identifies significantly more at-risk couples than traditional targeted screening approaches.
For Healthcare Providers
Pre-marital screening uses a curated NGS panel targeting autosomal recessive and X-linked conditions with high carrier frequency in the regional population, supplemented by expanded carrier screening genes. Testing is performed on the Illumina platform with >100x mean coverage. Variants are classified per ACMG/AMP guidelines. Couples analysis identifies shared heterozygous carrier status with Mendelian risk calculation. All results include mandatory genetic counseling. Panel content is periodically updated based on regional epidemiological data.
Important Limitations
- Carrier screening cannot detect all possible genetic variants — a negative result reduces but does not eliminate carrier risk.
- Conditions not included in the panel will not be detected. The panel focuses on clinically significant conditions with established carrier rates.
- Variants of uncertain significance (VUS) may be identified and can require additional evaluation.
- De novo mutations (new mutations not present in either parent) cannot be predicted.
- Testing does not replace standard pre-marital health checkups and blood compatibility testing.
Frequently Asked Questions
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Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
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