NOVA™ Metabolic Disease Screening

BGI provides newborn testing for inherited metabolic disorders based on tandem mass spectrometry coupled to liquid chromatography (LC-MS/MS) and fluorescence analysis. It allows inexpensive and simultaneous detection of 51 different metabolic disorders from one dried blood spot specimen with fast and accurate results.

Many metabolic disorders are amenable to effective treatment upon timely diagnosis. Early detection and intervention can lead to favorable clinical outcomes.

BGI’s NOVA™ Metabolic Disease Screening is suitable for newborns suspected of having a metabolic abnormality

Metabolic diseases screened
  • Amino acid metabolism disorder (21 disorders)
  • Organic metabolic disorders (12 disorders)
  • Fatty acid oxidation metabolic disorders (15 disorders)
Sample Requirement
  • Dried blood spot (heel)
  • Fed more than 6 times before blood draw.
  • Shipped within one week under room temperature.