Introduction
BGI Genomics NOVA™ Newborn Genetic Screening is an efficient genetic disease screening panel for your baby. One-stop screening for 254 common diseases subtypes involving 246 genes such as genetic metabolic diseases, hereditary deafness and thalassemia are provided for all newborns and children.
What clinical challenges are targeted by NOVA™ Newborn Genetic Screening?
Every year there are huge number of children born with hereditary disease. These diseases, if found early, have the effective interventions that can lead to significant reduction in disease severity and possibly even prevention of the disease.
The effort which tries to find these newborn hereditary disease as early as we could is called Newborn Screening (NBS). The history of NBS began with phenylketonuria (PKU) screening in the early 1960s, which achieved much success.
A revolutionary turning point came in the 1990s with the introduction of tandem mass spectrometry (MS/MS), which makes it possible to screen for a large number of inherited metabolic disorders (IMDs) simultaneously in a single assay, improving the efficiency of NBS enormously and expanding the NBS panel.
However, besides IMDs, there are also other kinds of hereditary diseases such as hereditary deafness or Duchenne muscular dystrophy, which are also serious genetic disease and cannot be screened by tandem mass spectrometry. Newborn genetic screening however, makes a comprehensive and all-in-one screening on the disease causing genes, which include IMDs and other kinds of hereditary diseases regarding hereditary deafness or neuromuscular diseases.
Applicable Clinical Scenarios
- Screening: Newborn genetic screening can identify certain diseases that benefit from early diagnosis and treatment. It can be conducted during the neonatal period, allowing for early diagnosis and intervention for positive screening cases.
- Assistant diagnosis: Screening and diagnosis of potential patients before symptoms appear or in the early stage of the disease and timely intervention to avoid or reduce the impact of the disease on sick children and their families.
- Fertility guidance: Genetic screening combined with genetic counseling can evaluate the risk of disease recurrence and provide scientific guidance for couples to reproduce.
Important features of NOVA™ Newborn Genetic Screening
More than 10,000 pathogenic or likely pathogenic variants in the BGI neonatal disease database, including SNVs, CNVs, Indels (≤20 bp) for all genes included, and deletions/duplications for certain gene exons.
| Product Name | NOVA™ Newborn Genetic Screening |
| Detection Method | NGS (Target capture) |
| Sample Type | Dried blood film; Peripheral blood |
| Conditions Detected | 112 diseases (254 disease subtypes): Amino acid disorders (34 types), Organic acid condition (35 types), Fatty acid oxidation disorders (16 types), Lysosomal storage disease (22 types), Carbohydrate metabolic disorder (16 types), Peroxisomal disease (18 types), Order metabolic disorder (20 types), Endocrine disorder (22 types), Hearing loss (24 types), Neuromuscular disease (15 types), Hemoglobin disorder (9 types), Immune system disorder (13 types), Others (10 types) |
| Genes Detected | 246 genes |
| Variants Detected | More than 10,000 pathogenic or likely pathogenic variants, including SNVs, CNVs, Indels (≤20 bp) for all genes included, and deletions/duplications for certain gene exons |
Why Choose NOVA™ Newborn Genetic Screening
- Accurate
The coding regions of the target genes are completely sequenced, and different types of variants including SNVs, Indels and CNVs could be analyzed all-in-one. More than 10,000 pathogenic and likely pathogenic variants are accurately interpreted according to ACMG guidelines.
- Comprehensive
Screening the risks of a variety of common genetic diseases, including genetic metabolic diseases, hereditary deafness, thalassemia, Duchenne muscular dystrophy, spinal muscular atrophy, etc.
- Multiple Sample Types
Carrier Screening product can accommodate samples from dried blood film or peripheral blood.
- Safe
We offer a safe and non-invasive method for comprehensive genetic analysis.
The NOVA™ Newborn Genetic Screening detection service process
Step 1
Physician orders test
Step 2
Sample collected
Step 3
Sample shipped to us and analyzed
Step 4
Results sent to physician
Localization solution of NOVA™ Newborn Genetic Screening
| Automation equipment | Sequencer | Maximum samples/ Flow cell | Sequencing time | Bioinformatics analysis |
|---|---|---|---|---|
| Manual | DNBSEQ-G99 | 24 sample/ 2FCL | 9h | HALOS-gNBS bioinformatics analysis system |
| DNBSEQ-G400 | 48 sample/ 1 FCS | 26 h | ||
| DNBSEQ-G400 | 192 sample/ 1 FCL | 38 h |
- User-friendly control
Independently developed desktop sequencer and automatic processing system.
- Accurate detection
Patented DNB nanoball (DNB) library construction technology and Combinatorial Probe-Anchor Synthesis sequencing technology.
- Flexible throughput
Metagenomic sequencing of 24-192 samples can be performed at a time depending on different sequencing platforms.
- Comprehensive database
BGI Genomics' internal database which comprehensively integrates the public variant information and BGI Genomics' internal accumulated sample information.
NOVA™ Newborn Genetic Screening resources
Learn more about our product solution by downloading the relevant materials.
1. Condition list