Group 230

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 soemtimes 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.

Group 231

BGI NOVA™ Metabolic Disease Screening

BGI’s NOVA™ Metabolic Disease Screening Screening Test determines a baby’s risk for 48 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). It allows inexpensive and simultaneous detection of 48 different metabolic disorders from one dried blood spot specimen through tandem mass technology 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.