IVD reagents and kits are critical in the accurate and timely diagnosis of diseases. When it comes to rare diseases, the challenges in diagnosis are even more significant due to their low prevalence and often complex manifestations. Our company is a leader in rare disease diagnostic research, providing comprehensive IVD reagent/kit development services tailored for rare diseases.
Applications of IVD Reagents/Kits in Rare Disease Diagnosis
IVD diagnostic reagents and kits have wide-ranging applications in diagnosing rare diseases. These specialized tools enable healthcare professionals to accurately identify and characterize rare diseases, leading to improved disease management and targeted therapeutic strategies. Some key applications of IVD diagnostic reagents/kits in rare disease diagnosis include:
Biomarker Detection
Biomarkers are measurable indicators of biological processes or disease states. IVD diagnostic reagents and kits are designed to detect specific biomarkers associated with rare diseases. These biomarkers can be proteins, nucleic acids, or other molecules that provide valuable insights into the presence, severity, or progression of the disease.
Genetic Testing
Many rare diseases have a genetic basis, making genetic testing an important part of diagnosis. IVD diagnostic reagents and kits employ technologies like PCR, DNA sequencing, and NGS to detect genetic mutations or variants linked to rare diseases. They also help determine inheritance patterns and identify individuals at risk within families.
Immunoassays
Immunoassays are widely used in the diagnosis of rare diseases. IVD diagnostic reagents and kits employ various immunoassay formats, such as ELISA and LFIA, to detect and quantify disease-specific antibodies or antigens. Immunoassays play a vital role in the diagnosis of autoimmune diseases, infectious diseases, and certain genetic disorders.
Fig. 1 Verify the effectiveness of diagnostic reagents.
Common IVD Reagents/Kits for Rare Disease
Currently, a variety of IVD reagents and kits have been developed specifically for rare diseases. These innovative solutions have greatly facilitated the early identification and accurate diagnosis of rare diseases.
| Reagents/Kits Name |
Target Rare Disease |
Diagnostic Technology |
| SMA Gene Testing Reagent/Kit |
Spinal Muscular Atrophy (SMA) |
MLPA, qPCR, PCR-RFLP, Sanger Sequencing, NGS |
| SCID Diagnostic Reagent/Kit |
Severe Combined Immune Deficiency (SCID) |
qPCR, Nested PCR, L-PAST |
| DMD Gene Testing Reagent/Kit |
Duchenne Muscular Dystrophy (DMD) |
NGS, Multiplex Fluorescence Competitive PCR |
| FXS Diagnostic Reagent/Kit |
Fragile X Syndrome (FXS) |
TP-PCR, MS-LR-PCR, NGS, Long Read Sequencing |
Our Services
Our company has emerged as a leading provider of IVD reagent/kit development services by leveraging extensive expertise and customized solutions. Through the utilization of advanced technology platforms and well-defined development workflows, we can develop high-quality IVD reagents and kits suitable for a variety of assay formats and target analytes, thereby promoting the precise diagnosis and management of rare diseases.
Our Development Workflow
Proof of Concept and Feasibility
First, we assess the feasibility of the concept product. We identify the essential materials and detection components based on customer requirements, estimate costs, and provide a comprehensive development plan.
IVD Reagent/Kit Design Service
Once concept and feasibility are proven, we offer comprehensive IVD reagent/kit design services. This stage entails meticulous design and formulation of the diagnostic reagents and components comprising the IVD kit.
IVD Reagent/Kit Verification Service
Verification is a critical step in the IVD reagent/kit development workflow. Our company offers an extensive IVD reagent/kit verification service to ensure the accuracy and reliability of the diagnostic tool.
IVD Reagent/Kit Optimization Service
Our company provides an IVD reagent/kit optimization service to refine and enhance the performance of the diagnostic tool based on user feedback and emerging scientific advancements.
Optimal Assay Formats
| Immunoassays |
Nucleic Acid Amplification Techniques |
Mass Spectrometry |
- Enzyme-Linked Immunosorbent Assay (ELISA)
- Chemiluminescent Immunoassay (CLIA)
- Fluorescence Immunoassay (FIA)
- Radioimmunoassay (RIA)
- Immunochromatographic Assay (lateral flow)
|
- Polymerase Chain Reaction (PCR)
- Reverse Transcription Polymerase Chain Reaction (RT-PCR)
- Real-time Quantitative PCR (qPCR)
- Loop-Mediated Isothermal Amplification (LAMP)
- Nucleic Acid Sequence-Based Amplification (NASBA)
|
- Matrix-Assisted Laser Desorption/Ionization (MALDI)
- Time-of-Flight Mass Spectrometry (TOF-MS)
- Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
- Inductively Coupled Plasma Mass Spectrometry (ICP-MS)
|
| Biosensors |
Clinical Chemistry |
Serology |
- Electrochemical Biosensors
- Optical Biosensors
- Surface Plasmon Resonance (SPR)
|
- Enzymatic Assays
- Colorimetric Assays
- Spectrophotometric Assays
|
- Agglutination Assays
- Complement Fixation Assays
- Neutralization Assays
|
| Flow Cytometry |
Microarrays |
Lateral Flow Assays |
- Fluorescence-Activated Cell Sorting (FACS)
- Cell Surface Marker Analysis
|
- DNA Microarrays (gene expression analysis, genotyping)
- Protein Microarrays (protein profiling, antibody detection)
|
- Immunochromatographic Assays
- Nucleic Acid Lateral Flow Assays
|
| Hematology |
Microbiology |
Point-of-Care Testing (POCT) |
- Complete Blood Count (CBC)
- Coagulation Assays
|
- Culture-Based Methods
- Antimicrobial Susceptibility Testing
|
- Rapid Diagnostic Tests (RDTs)
- Handheld Analyzers
|
Optional Target Analyte Types
Proteins
- Enzymes
- Antibodies
- Antigens
- Hormones
- Cytokines
- Anticoagulant proteins
Cells and Components
- Blood cells
- Stem cells
- Circulating tumor cells (CTCs)
- Epithelial Cells
- Immune Cells
- Cell surface markers
Biomarkers
- Tumor markers
- Cardiac markers
- Renal function markers
- Liver function markers
- Oxidative stress markers
- Inflammatory markers
Nucleic Acids
- DNA
- RNA (mRNA, miRNA)
- Complementary DNA (cDNA)
- Genetic Markers (SNPs, CNVs)
Pathogens
- Bacteria
- Viruses
- Fungi
- Parasites
Other Analytes
- Toxins
- Allergens
- Metabolites
- Clotting factors
Our Advantages
Time-saving services with high efficiency
Professional and experienced team
Cutting edge technology platform
Numerous service cases and customer praise
No matter which research stage you are at, we can provide comprehensive services to meet your needs. If you are interested in our services, please don't hesitate to contact us for further information and pricing details regarding our services.
References
- Marwaha, Shruti, Joshua W. Knowles, and Euan A. Ashley. "A guide for the diagnosis of rare and undiagnosed disease: beyond the exome." Genome medicine 14.1 (2022): 23.
- Hartley, Taila, et al. "New diagnostic approaches for undiagnosed rare genetic diseases." Annual review of genomics and human genetics 21 (2020): 351-372.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
