What Is Carrier Screening?

In recent years, extraordinary advances in genomics and biotechnology have paved the way for reading and understanding information about the human genome. In particular, a new sequencing technology called Next-Generation Sequencing (NGS) is making DNA analysis more comprehensive, easier and more effective. The growing information obtained from NGS provides a remarkable perspective on genetic disorders. This improved understanding is ultimately evolving into advanced genetic tests, namely carrier screening tests, which drive broader and more comprehensive screening for genetic diseases.
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Who Is It Suitable For?

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Couples planning a pregnancy

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Individuals with a family history of genetic disease

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Consanguineous couples

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Individuals seeking a comprehensive risk assessment before pregnancy

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What Is GeneScreen?

GeneScreen® is a carrier screening test that identifies couples at risk of passing hereditary disorders on to their children. GeneScreen ® uses highly advanced next-generation sequencing (NGS) technology that targets the nuclear and mitochondrial (mtDNA) genomes. GeneScreen ® performs exon sequencing of all genes on the panel, which allows a more comprehensive analysis of each gene and the associated diseases. The GeneScreen® Carrier Screening Test provides comprehensive care and enables patients to make more informed reproductive decisions. Offering GeneScreen® to a patient before pregnancy allows them to learn about their reproductive health early on.

GeneScreen Panels

GeneScreenFocus

  • 30 genes analyzed

    GeneScreenProtect

    • >120 genes analyzed

      GeneScreenEasy

      • >400 genes analyzed

        GeneScreenComplete

        • >2000 genes analyzed

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          Many studies have shown that:

          • In 80% of couples who have children born with a genetic recessive disorder, the parents have no symptoms.

          • Each individual is a carrier of an average of -2.8 pathogenic variants.

          • Approximately 1 in 4 people (24%) is a carrier of at least 1 gene mutation, and 1 in 20 people (5.2%) is a carrier of multiple gene mutations.

          • 1 in 20 people (5%) is a carrier of a gene mutation, 88% had no prior family history, and 1 in 240 were high-risk carrier couples with a risk of having a child with a gene mutation. This is why carrier screening tests are important.

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