BGI NOVA™ Newborn Genetic Screening

Newborn Genetic Screening is a highly accurate, next-generation neonatal genetic screening test that detects more than 200 genetic disorders in newborns, including metabolic, endocrine, immune, and hematological disorders. The methodology is based on the use of next-generation sequencing (NGS) technology, followed by bioinformatics analysis and clinical validation.

Key Features

More than 200 monogenic disorders across 6 key categories: organic acidurias, fatty acid oxidation disorders, amino acidopathies, urea cycle disorders, hemoglobinopathies, and others.

Method: targeted sequencing with high coverage depth and coverage of critically important exons.

Assessment of polymorphisms and clinically significant variants, including SNVs, Indels, and CNVs.

Advantages

• A broader range of diseases compared to standard biochemical neonatal screening.
• Early detection of severe inherited conditions allows for timely initiation of treatment or adjustment of care, which is critical for preserving the child’s health and life.
• High specificity and sensitivity, validated by clinical studies.
• Opportunity for personalized genetic counseling based on test results.
• A detailed report is provided with an interpretation of each detected variant according to the ACMG classification.
• Option to include carrier status results if the parents wish.

Intended Use

Additional testing for newborns, particularly in cases of a family history of genetic disorders, neonatal symptoms of unknown etiology, or as part of expanded neonatal diagnostics.

An alternative or supplement to traditional screening for phenylketonuria, congenital hypothyroidism, and others.

List of diseases detected by BGI NOVA™ Newborn Genetic Screening

BGI NOVA™ Newborn Genetic Screening — comprehensive neonatal genetic screening