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WITH THE GENETICIST/

ART Genetic Pathway

Genetic Testing for ART

Karyotype

Core chromosomal investigation before ART.

Cystic Fibrosis

Core genetic screening before ART.

Karyotype and cystic fibrosis testing are available within a dedicated medical pathway.
The process is organized rapidly, with no waiting times.
Booking is arranged through direct contact with the geneticist.
Indicative pricing: Karyotype 380 € — CFTR 320 €. Turnaround time: approx. 2 weeks.*

ACCCESS THE TESTS

*Karyotype and CFTR testing are available through partner laboratories under the supervision of the Medical Geneticist within a private consultation pathway.
These tests are not performed within or on behalf of the accredited laboratory of Breda Genetics.

Before testing, a strategy.

In reproductive medicine, genetic testing is often performed too early or in the wrong order.
Even when requested by a gynecologist or an andrologist, ART-related genetic investigations such as karyotype analysis or cystic fibrosis carrier screening require validation by a Medical Geneticist.

This ensures that testing is clinically appropriate and that couples are properly informed about reproductive risks, test limitations, and the possible implications of the results, and allows appropriate follow-up in case of pathological or atypical findings.

For this reason, in many jurisdictions genetic testing must be prescribed within a formal medical genetics consultation.

Common Pitfalls

Some issues recur frequently before ART decisions are made.

  • Testing without genetic counseling
  • Routine checklists instead of strategy
  • Abnormalities found after failed cycles
  • Testing ordered without a rationale

Why people get lost

  • Many fertility pathways offer testing without medical genetic counseling.
  • Couples are often referred to a geneticist only after testing has already been performed elsewhere.

What people don’t know

  • Family history matters: pedigree analysis can reveal specific hereditary risks
  • Genetic results are rarely “normal / abnormal” like routine blood tests
  • Many findings require clinical interpretation (e.g. VUS, uncertain significance)
  • Even after negative screening, residual reproductive risk remains (de novo variants, limitations of current testing)

The hidden cost of the wrong sequence

  • Abnormal results discovered late can delay or interrupt ART pathways
  • Couples are often referred to a geneticist only after testing has already been performed
  • Time is lost repeating tests or reinterpreting incomplete investigations
  • The emotional and financial cost increases when decisions are made without a prior genetic strategy
ACCESS THE TESTS

Testing, with a strategy.

Private medical consultation pathway led by a Medical Geneticist.

For clarity, pre-test genetic counseling for ART does not include isolated prescriptions for the public healthcare system (SSN) or for third-party laboratories.

Beyond standard pre-ART testing

Karyotype analysis and CFTR carrier screening represent the traditional genetic investigations performed before assisted reproduction.

However, in some couples a broader evaluation of the genetic background may be considered.

Advanced genomic analyses such as EXOME PRO or GENOME PRO, performed by Breda Genetics prior of a private consultation, can explore a much wider range of reproductive and health-related genetic risks when clinically appropriate.

→ Learn more about Predictive Genomics