A cheek swab or heel prick blood test to screen for 50 different inherited genetic conditions in newborn babies and 20 conditions which affect the way the baby handles certain medications. Current UK national screening only identifies 9 conditions.
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.
Following birth, an infant will undergo testing called newborn screening. Approximately 24-48 hours after birth, a blood sample is collected through a heel poke. The sample is then sent to the state laboratory for testing. At the laboratory, several biochemical tests are performed to screen for a select number of serious, inherited metabolic conditions. If these conditions are identified and treated early, a child usually develops normally and lives a healthy life. Unfortunately, if these conditions are not recognized within a very sensitive time window, it may be too late. Once symptoms appear, they are often irreversible and lead to severe health problems or even death. With early detection, physicians and parents have the opportunity to be proactive and change a child’s life forever.
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.
Who is the Nova Newborn Screening Test 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