For the future you're building together

Carrier screening checks whether you carry one copy of a recessive disease variant. For most recessive conditions, a single copy means you are a healthy carrier — you don't have the disease, but if your partner is also a carrier of the same gene, each pregnancy has a 1-in-4 chance of an affected child. Carrier screening is therefore a family-planning tool, not a personal disease test.

We follow internationally recognized medical-genetics guidelines, plus extra coverage for genes that are particularly relevant in Turkish and Mediterranean populations. Examples include spinal muscular atrophy (SMN1), cystic fibrosis (CFTR), beta-thalassemia (HBB) — about 2.1% carrier frequency in Turkey — PKU (PAH), Fragile X premutation (FMR1), and many more.

For most recessive conditions, being a carrier does not affect your own health. It only matters when planning a child with someone who also carries the same gene. In that specific case, each pregnancy carries a 25% chance of an affected child. The report walks you through your specific results and what they mean for your situation.

For a typical recessive condition, your child cannot be affected unless both parents carry the same gene. There is a 50% chance the child will inherit one copy and become a carrier themselves — which only matters for their own future family planning, not their health. The report explains this in plain language for each finding.

It is a DNA change whose impact isn't yet well understood. To avoid causing unnecessary worry, we don't surface uncertain variants as actionable findings for family planning — only ones with strong evidence behind them. This follows the international standard for variant classification (ACMG/AMP, 2015) and the ACMG practice resource for carrier screening (Gregg et al., 2021), which both recommend acting only on Pathogenic / Likely Pathogenic findings. As scientific knowledge grows, an uncertain variant can be re-classified, and your report updates automatically.

That is your choice. There is a well-established list of genes (such as BRCA1/2 for hereditary breast and ovarian cancer) where a positive result is medically actionable on its own, regardless of family planning. You decide at intake whether to receive these as secondary findings — and you can change your mind at any time.

No. Carrier screening looks at single-gene recessive conditions. Conditions like Down, Edwards, or Patau syndromes are caused by an extra chromosome and need a different test — typically NIPT during pregnancy. If you need both, the report points you to the right pathway.

Every positive carrier finding includes a complimentary tele-counseling session with a licensed genetic counsellor. We strongly recommend taking it — counselors put numbers in personal context (your partner's status, family history, regional carrier frequency) so the result becomes a decision, not just a label.

Your data is kept on our own protected systems and never shared with third parties without your explicit consent. We comply with KVKK (Turkey's Personal Data Protection Law No. 6698) and apply GDPR-grade protections; genetic data is treated as a special category in both. You can export or delete your data at any time. We never share carrier results with insurers, employers, or any third party.