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Congenica Carrier Screening

Pre-conception Carrier Screening

Carrier screening is designed to identify genetic variants associated with specific diseases or traits in healthy individuals that have the potential to cause serious genetic conditions when passed down generations. It is often performed at pre-conception or during early pregnancy to provide future parents with reproductive choices.

Although widely available, carrier screening is often restricted to a predefined set of variants known to have an elevated carrier rate in particular ethnic groups. This can result in a false sense of confidence as this approach only provides a limited carrier risk assessment.

Comprehensive preconception carrier screening - family planning with confidence



Congenica's comprehensive carrier screening service uses pan-ethnic digital profile modelling based on a couple's genetic information.  This novel approach makes use of the principles of autosomal recessive and X-linked inheritance and creates a digital profile of the couple's potential offspring for accurate carrier risk analysis and family planning.


Experience you can rely on


Our in-house team of registered Clinical Scientists hold decades of experience in variant interpretation gained from leading genomics laboratories in healthcare settings. Each year, our Clinical Interpretation Service independently assessed by Genomics Quality Assessment (GenQA) to ensure we can provide the highest quality standards in genomic variant analysis.

  • High quality service

  • Rapid turnaround times

  • Clinical-grade reports