BGI NOVA™ Metabolic Disease Screening


BGI’s NOVA™ Metabolic Disease Screening Test determines a baby’s risk for 51 different metabolic disorders including metabolic disorders of amino acids, organic acidemias and fatty acid oxidation deficiencies.

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.


    Newborns suspected of having a metabolic abnormality

  • TA TIME:

    5-7 working days


    Blood spot


    Tandem mass spectrometry , fluorescence analysis

Why Choose BGI NOVA™ Metabolic Disease Screening?

  • Fast – 5-7 working days from sample to genetic testing report

  • Comprehensive – simultaneous detection of 51 different metabolic disorders

  • Affordable – lower price for every family


Note: this test is considered a screening test, not a diagnostic test. Before making any treatment decisions, all patients/guardians should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. This testing service has not been cleared or approved by the US FDA and is not available in the USA.

Conditions Screened


Ordering BGI NOVA™ Metabolic Disease Screening is easy.
  • STEP 1

    Physician orders test

  • STEP 2

    Blood or saliva sample collected

  • STEP 3

    Sample shipped to BGI and analyzed

  • STEP 4

    Results sent to physician