Gaucher disease is a rare genetic disorder characterized by anemia, fatigue, bruising, and organ enlargement. Our company is dedicated to advancing the field of Gaucher disease diagnosis through cutting-edge technologies and tailored solutions. By developing innovative IVD reagents/kits and compact diagnostic devices, our aim is to address the complexity of Gaucher disease pathogenesis and diagnostic challenges.
Overview of Gaucher Disease
Gaucher disease, an uncommon genetic condition, arises from the buildup of glucocerebroside in cells and tissues due to a shortage of the enzyme glucocerebrosidase. This insufficiency leads to detrimental deposits mainly in the liver, spleen, and bone marrow. Categorized as Type I, Type II, and Type III, Gaucher disease presents varying degrees of severity and neurological complications. In the broader population, Gaucher disease impacts 1 in every 40,000 births.
Pathogenesis of Gaucher Disease
The pathogenesis of Gaucher disease involves a malfunction in the GBA gene, leading to impaired glucocerebrosidase activity. This enzyme deficiency disrupts sphingolipid metabolism, resulting in the accumulation of glucocerebroside. The excess build-up primarily affects macrophages and white blood cells, impacting various organs and tissues.
Fig. 1 Schematic diagram of the molecular mechanism of Gaucher disease. (Roh, et al., 2022)
In Vitro Diagnostic Development for Gaucher Disease
Developing effective in vitro diagnostic (IVD) tools for Gaucher disease requires a comprehensive understanding of the complexity and variability of the condition. Diagnostic development strategies involve a variety of approaches aimed at tackling the difficulties linked with this rare genetic condition.
Genetic Testing
Genetic testing plays a key role in diagnosing Gaucher disease, particularly in identifying specific mutations in the GBA gene. Advanced molecular diagnostic techniques, such as PCR and next-generation sequencing (NGS), can accurately detect pathogenic variants associated with Gaucher disease.
Enzyme Activity Assays
Measuring the level of glucocerebrosidase activity in patient samples is fundamental to the diagnosis of Gaucher disease. Biochemical assays such as fluorometric and colorimetric assays can be used to quantitatively assess enzyme activity, providing valuable information for confirming the disease.
Biomarker Profiling
Elevated levels of biomarkers such as chitotriosidase and CCL18/PARC can also aid in the diagnosis and monitoring of Gaucher disease. Using this strategy, the development of biomarker detection kits could facilitate the management and therapy monitoring of Gaucher disease.
IVD Products for Gaucher Disease
IVD products for Gaucher disease are crucial in facilitating the accurate and timely diagnosis, monitoring, and management of this rare genetic disorder. Some IVD products for Gaucher disease are listed below.
| Product Name |
Uses |
Techniques |
| GBA Gene Detection Kit |
The kit is designed to identify mutations in the GBA gene. |
PCR or NGS |
| Glucocerebrosidase Activity Detection Kit |
This kit is used to measure the activity level of glucocerebrosidase. |
Fluorometric or colorimetric assays |
| Gaucher Disease Test Strip |
The strip offers an easy way to identify the most frequent mutations and recombinant alleles in the GBA gene. |
Multiplex PCR |
| Glucosphingosine (lyso-GL-1) Assay Kit |
This kit is used to detect the biomarker (Lyso-GL-1) for Gaucher disease. |
ELISA |
Our Services
Our company stands as a leader in diagnostic development services for Gaucher disease, offering a comprehensive range of IVD solutions to address the complex diagnostic needs. Our expertise lies in designing gene or metabolite detection reagents/kits specifically for Gaucher disease to facilitate early identification and accurate diagnosis of this rare genetic disease. Complemented by advanced molecular diagnostic equipment, we strive to streamline and automate the diagnostic process for enhanced efficiency.
IVD Product Development Services
Optional IVD Products
- GBA Gene Detection Kit
- Glucocerebrosidase Activity Detection Kit
- Biomarker Detection Kit
- Primers and Probes
- DNA Extraction Reagents
- PCR Reagents
- Nucleic Acid Extractor
- PCR Instrument
- Bioinformatics Software
- And More
Additionally, our services include point-of-care diagnostics and companion diagnostics development tailored for Gaucher disease. These offerings are instrumental in facilitating swift disease detection and early recognition of Gaucher disease. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Roh, Jaehyeok, et al. "Gaucher disease–more than just a rare lipid storage disease." Journal of Molecular Medicine 100.4 (2022): 499-518.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
