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.
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
15 working days
Saliva, blood spot from heel, cord blood, peripheral blood (children under 5 years)
Target region capture, high-throughput sequencing
Amino Acid Metabolism Disorders
Fatty Acid Oxidation Disorders
Organic Acid Disorders
Creatine Metabolism Disorders
Lysosomal Storage Disease
Copper Metabolism Disorder
Primary Immunological Deficiency
Blood Lipid Disorders
Miscellaneous Genetic Conditions
Ordering BGI NOVA™ Newborn Genetic Screening is easy.
Physician orders test
Blood or saliva sample collected
Sample shipped to BGI and analyzed
Results sent to physician