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 48 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
5 working days
Tandem mass spectrometry , fluorescence analysis
Newborn Inherited Metabolic Disorders
Metabolic Disorders of Amino Acid
Fatty Acid oxidation Deficiency
Ordering BGI NOVA™ Metabolic Disease Screening is easy.
Physician orders test
Blood or saliva sample collected
Sample shipped to BGI and analyzed
Results sent to physician