Breakthrough Genomics’ Clinical Whole Exome and Whole Genome Sequencing Tests are helping to transform neonatal care by giving doctors an accurate diagnosis of thousands of genetic possibilities in only one, non-invasive test.


This means doctors can quickly decide on the best treatment options for their patients that can reduce a child’s time in the Intensive Care Unit.

rWES and rWGS Tests offer comprehensive genetic analysis that can uncover:

  • newly-discovered pathogenic variants
  • previously-unrecognized clinical conditions
  • variants not covered in standard gene panels

Breakthrough Genomics rWES and rWGS Tests feature:

  • high throughout rWES and rWGS sequencing data with deep gene coverage
  • up-to the minute analysis of the very latest scientific research and literature
  • high diagnostic yields
  • fast turnaround times