Find concise answers to common questions about SMA carrier screening, prenatal assessment and the application process.
SMA carrier screening results are generally ready within 7–10 business days. Transport time to the laboratory may affect this period. Results are announced by email and SMS.
A simple blood sample is sufficient for carrier screening. The most suitable sample location and collection arrangements are shared during application.
No. Fasting or special preparation is not required; you may continue your normal eating and drinking routine.
Yes. Testing is possible during pregnancy, although the ideal time is before conception. If carrier status is identified during pregnancy, timely partner testing becomes important.
A negative result means no finding supporting carrier status was detected in SMN1 within the scope of the method used. No screening test excludes every possibility, so residual risk should be discussed with a genetics professional.
A positive result indicates SMA carrier status. It usually does not affect the carrier’s own health; if the partner is also a carrier, each pregnancy has a 25% chance of an affected child. Partner testing and genetic counselling are recommended.
A VUS is a genetic change whose clinical significance cannot yet be determined. Family studies, literature follow-up or additional testing may be needed, and the finding should be interpreted by a specialist.
Personal and genetic data are processed in line with applicable data-protection obligations and protected by access and security controls. See the privacy notices for details.
Current service terms for pre-test information and result guidance are shared during application. Any need for detailed clinical counselling is assessed separately.
A genetic counsellor explains the scope and results of testing, reviews family history, and discusses possible risks and appropriate next steps in clear language.
Both partners’ results and family histories are assessed together. If both are carriers, reproductive and prenatal diagnostic options are planned with the relevant physicians.
Current pricing depends on the testing scope and sample arrangements. Submit the contact form or call our team for personalised information.
Coverage can vary according to the reason for testing and current rules. Confirm the latest benefit information directly with SGK or your private insurer.
Current payment and instalment options are shared during application. Bank and campaign terms may change.
Partner testing is a separate laboratory analysis. Current couple-testing options and fees are explained during application.
SMA carrier status usually causes no symptoms and cannot be recognised by appearance. It can only be identified through appropriate genetic testing.
For each pregnancy there is a 25% chance of an affected child, a 50% chance of a carrier child and a 25% chance of a non-carrier child.
Yes. SMA follows autosomal recessive inheritance, so carrier status may also warrant assessment of family members.
Yes. SMA carrier status is independent of sex; both women and men may be carriers.
No. SMA carrier status occurs in all populations. Frequency may vary, but the risk is not limited to one ethnicity.
If one partner is identified as a carrier, testing the other partner is important for assessing the couple’s pregnancy risk.
When carrier status is identified, risk to siblings and close relatives is assessed together with family history. Testing decisions should be made with genetic counselling.
Treatment options for SMA are available and are assessed according to disease type, age and clinical condition. Diagnosis and treatment decisions must be made by neurology and relevant specialist teams.
Civil-society organisations support people living with SMA and their families in Türkiye. Ask our team for current, verified contact information.
If both parents are carriers, prenatal diagnostic options such as chorionic villus sampling or amniocentesis may be considered with a physician according to gestational age and clinical circumstances.
