NOVA™ – Newborn Screening

BGI NOVA™ Newborn Genetic Screening

Each year, an estimated 7.9 million babies worldwide are born with birth defects, many of which appear healthy at birth and come from families with no history of the disorder. Many affected babies are not identified until the appearance of severe and often irreversible symptoms later in life.

Detecting a disease at an early stage can enable appropriate and timely medical intervention before more serious and sometimes irreversible health issues are caused.

BGI’s NOVA™ Newborn Genetic Screening Test determines a baby’s risk for 87 inherited disorders, as well as providing personalized genetic information on the likely response of 32 pediatric drugs.

BGI’s NOVA™ Newborn Genetic Screening is suitable for:

  • Parents who want a comprehensive genetic screen for their baby
  • Parents who would like to learn their baby’s drug-related genetic status
  • Babies who have missed out on regular screening
  • Babies from parents with a family history of inherited disorders or from a population identified as at higher risk for genetic disease

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.

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