At the 10th International Congress on Preimplantation Genetic Diagnosis, PerkinElmer Inc announced the introduction of its new prenatal BACs-on-Beads (BoBs)™ in vitro diagnostic (IVD) assay for rapid prenatal testing of multiple genetic diseases, for use in the European Union.

The Prenatal BoBs assay is the first IVD product from the BACs-on-Beads proprietary multiplexed bead-based technology product family. The assay is a novel solution for IVD use in cytogenetics laboratories for analysis of chromosomes linked to major genetic diseases affecting newborns and their families. Prenatal BoBs can test for multiple chromosomal abnormalities simultaneously from minute amounts of DNA sample, with results obtained in less than 24 hours. Additionally, clinicians can analyze over 40 samples at once for high throughput diagnostic capability.

"The prenatal BACs-on-Beads assay is the first in a series of coming BACs-on-Beads products designed to meet growing needs in prenatal in vitro diagnostics, to help doctors and families identify and combat complex genetic diseases,” said Ann-Christine Sundell, president, Genetic Screening, PerkinElmer. “Our prenatal BoBs system is an essential tool for clinicians, enabling them to rapidly and accurately screen for abnormalities linked to multiple diseases, in multiple patients simultaneously.”

The prenatal BoBs assay is a CE-marked molecular karotyping technology that enables targeted detection of DNA gains and losses in carefully chosen, prenatally relevant genomic regions. The assay detects aneuploidies of chromosomes 13, 18, 21, X and Y, as well as DNA copy number changes in 9 microdeletion syndrome regions. By concentrating on regions linked to causes of severe constitutional disorders, the assay provides more actionable information than is obtained with other commonly used methods, yet avoids answers of unknown significance.

The Prenatal BoBs assay system can be used to find chromosomal abnormalities linked to the following diseases:


  • DiGeorge Syndrome
  • Williams-Beuren Syndrome
  • Prader-Willi Syndrome
  • Angelman Syndrome
  • Smith-Magenis Syndrome
  • Wolf-Hirschhorn Syndrome
  • Cri du Chat Syndrome
  • Langer-Giedion Syndrome
  • Miller-Dieker Syndrome

Prenatal BoBsTM is available for use only in the European Union.

Source: PerkinElmer