BGI VISTA™ Genetic Carrier Screening

BGI VISTA™ Carrier Screening is a comprehensive solution for prenatal or pre-pregnancy screening for carrier status of mutations associated with more than 170 hereditary diseases. The screening is designed for individuals or couples who are planning a pregnancy or are in the early stages of pregnancy, and it enables them to make informed reproductive decisions based on accurate molecular genetic analysis. Blood and saliva are used as samples.

The testing technology is based on next-generation sequencing (NGS) with high coverage and targeted capture of exonic regions of 164 genes. The panels detect:

• Single-nucleotide variants (SNVs)
• Small deletions/insertions (InDels ≤20 bp)
• Deletions/duplications of exons in individual genes

Panel options

For more details, download the relevant manual.

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Indications for Testing

• Plans for pregnancy or use of donor gametes (sperm, eggs)
• Family history of hereditary diseases
• Belonging to ethnic groups with a higher prevalence of certain mutations
• Pregnancy for couples who wish to assess the genetic risks to the fetus

Advantages

• Safety: The biological sample is venous blood or saliva
• Flexibility: choice between a targeted and an expanded panel
• High sensitivity and specificity: detection of a wide range of mutations in a single test
• Option for joint analysis of the couple—to assess the risk of autosomal recessive inheritance

BGI VISTA™ Carrier Screening—a powerful tool for personalized reproductive medicine that minimizes the risk of having a child with a hereditary disease through genetic testing of the parents.