NOVA™ Newborn Genetic Screening

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.

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 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
  • Unique target sequencing.
  • Library with trace DNA: can obtain >100ng DNA from samples and build a
    library based on just 50ng DNA (1ug=1000ng is the minimal requirement for standard library).
  • A comprehensive database comprising 12,000 mutations of all listed genes is
    used to generate reports automatically.
Sample requirements

Saliva (oral swab) or dried blood spot (heel)