Introduction
Metabolic disorder is an inherited defect in which the synthesis of some necessary peptide or protein-based enzymes, receptors and carriers is dysfunctional, which means that genes coded for these peptides (proteins) are mutated. An Inherited metabolic disorder is a kind of genetic disease with metabolic dysfunction, most of which are monogenic diseases. BGI Genomics provides testing for inherited metabolic diseases based on liquid Chromatography with tandem mass spectrometry (LC-MS/MS) for 48 + 3 (optional) metabolic diseases simultaneously.
What clinical challenges are targeted by NOVA™ Newborn Metabolic Disease Screening?
The Newborn Metabolic Screen is a special test used to test for certain serious medical conditions which are caused by abnormalities regarding metabolites for newborns. The goal of the screen is to identify babies who have these disorders before they ever get sick, and to help them get treatment as soon as possible.
The effort to find these newborn hereditary diseases 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.
Applicable Clinical Scenarios
- Newborns between 48 hours and 7 days after birth and after sufficient breastfeeding for more than 6 times.
Important features of NOVA™ Newborn Metabolic Disease Screening
| Product Name | NOVA™ Newborn Metabolic Disease Screening |
| Detection Method | Liquid chromatography tandem mass spectrometry (LC-MS) (&fluoroimmunoassay) |
| Sample Type | Dried blood film (3 blood spots) |
| Conditions Detected | 48 metabolic diseases (see condition list below) + 3 metabolic diseases (CAH, CH, G6PD) |
| Conditions Detected | Metabolic Disorders of Amino Acid (21 types), Organic Acidemias (12 types), Fatty Acid oxidation Deficiency (15 types), Hormone Regulation Deficiency (2 types), Glycometabolism Deficiency (1 types) |
Why Choose NOVA™ Newborn Metabolic Disease Screening
- Accurate
Using derivatization method to further differentiate the substance tested.
- Comprehensive
Test for 48 metabolic diseases including 21 amino acid metabolism disorders, 13 organic acid metabolism disorders and 14 fatty acid metabolism disorders in one practice. Three metabolic diseases (CAH, CH, G6PD) with immunofluorescence methodology are optional.
- Compliance
The kit used for testing has multiple certificates (CE, NMPA, SFDA, etc.)
- Safe
We offer a safe and non-invasive method for comprehensive genetic analysis.
The NOVA™ Newborn Metabolic Disease 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 Metabolic Disease Screening
| MS detection | Kit provider |
|---|---|
| BGI LMSQ-1000 | BGI Genomics provides CE-certificated kits that are compatible with the leading MS providers in the market |
- User-friendly control
Independently-developed desktop mass spectrometer with embedded control software.
- Self-developed instrument platform
The BGI LMSQ-1000 liquid chromatography-tandem mass spectrometer combines the high separation efficiency of ultra-high-performance liquid chromatography with the strong quantification capabilities of triple quadrupole tandem mass spectrometry.
- Accurate detection
It offers excellent sensitivity and selectivity, along with good stability and strong resistance to contamination. This system is suitable for the highly sensitive qualitative and quantitative analysis of small organic molecules, such as amino acids, vitamins, and exogenous drugs in clinical samples.
NOVA™ Newborn Genetic Screening resources
Learn more about our product solution by downloading our relevant materials.
1.Amino Acid and Carnitine Detection kit
2.Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry