BGI NOVA™ Newborn Genetic Screening

BGI NOVA™ Newborn Genetic Screening

Introduction

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.

  • 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

  • TA TIME:

    15 working days

  • SAMPLE:

    Saliva, blood spot from heel, cord blood, peripheral blood (children under 5 years)

  • TECHNOLOGY:

    Target region capture, high-throughput sequencing

Why Choose BGI NOVA™ Newborn Genetic Screening?

  • Fast-15 working days to get your genetic report
  • Accurate-Targeted region capture based NGS with proprietary database
  • Affordable-Lower price for every family

 

Note: this test is considered a screening test, not a diagnostic test. Before making any treatment decisions, all patients/guardians should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. This testing service has not been cleared or approved by the US FDA and is not available in the USA.

Conditions Screened

Inherited Disorders

87

Amino Acid Metabolism Disorders

20

Fatty Acid Oxidation Disorders

16

Organic Acid Disorders

13

Carbohydrate Disorders

3

Creatine Metabolism Disorders

1

Lysosomal  Storage Disease

10

Copper Metabolism Disorder

2

Primary Immunological Deficiency

14

Blood Lipid Disorders

3

Miscellaneous Genetic Conditions

5

Paediatric Pharmacogenomics

32

Neurology drugs

11

Anti-infection agents

10

Cancer Drugs

2

Rheumatism drugs

1

Cardiovascular drugs

3

Gastroenterology drugs

3

Others

2

Workflow

Ordering BGI NOVA™ Newborn Genetic Screening is easy.

  • STEP 1

    Physician orders test

  • STEP 2

    Blood or saliva sample collected

  • STEP 3

    Sample shipped to BGI and analyzed

  • STEP 4

    Results sent to physician

Quick Contact