Dedicated to pushing the boundaries of Wilson disease diagnostics, our company is at the forefront of developing customized IVD solutions. Through the creation of pioneering genetic and metabolic biomarker detection regents/kits and automated diagnostic devices, we strive to confront the intricacies and diagnostic hurdles inherent in Wilson disease pathology, revolutionizing the detection and management of this condition.
Introduction to Wilson Disease
Wilson disease, also known as hepatolenticular degeneration, is a rare genetic disorder characterized by the abnormal accumulation of copper in the body, primarily affecting the liver and brain. According to statistics, about 1 in 30,000 people worldwide suffer from the disease.
Pathogenesis of Wilson Disease
This condition is caused by mutations in the ATP7B gene, which encodes a copper-transporting P-type ATPase involved in copper excretion. The impaired copper metabolism leads to toxic levels of copper in various tissues, resulting in a range of symptoms impacting the liver, central nervous system, and other organs.
Fig. 1 Copper metabolism defects and pathogenesis in Wilson disease. (Chakraborty U, Paria T K., 2021)
Diagnostic Biomarkers for Wilson Disease
Accurate diagnosis of Wilson disease is crucial for timely intervention and management of affected individuals. Several diagnostic biomarkers play a pivotal role in identifying and monitoring this condition:
Serum Ceruloplasmin
Ceruloplasmin is a copper-binding protein essential for copper transport in the blood. In Wilson disease, serum ceruloplasmin levels are often low due to impaired synthesis or abnormal function of ceruloplasmin. Decreased ceruloplasmin levels are a key diagnostic indicator and can help differentiate Wilson disease from other liver disorders.
Urinary Copper
Increased urinary copper excretion is a characteristic finding in Wilson disease. Copper overload in the body results in excess copper being excreted in the urine. Measurement of urinary copper levels, often in a 24-hour urine collection, aids in the diagnosis and monitoring of Wilson disease progression.
Genetic Testing for Wilson Disease
Genetic testing is another key strategy for the development of Wilson disease diagnostics. Genetic testing is used to confirm Wilson disease by identifying mutations in the ATP7B gene. Here are some common techniques employed in genetic testing for Wilson disease:
- Sanger Sequencing
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- Next-Generation Sequencing (NGS)
- Targeted Mutation Analysis
- Whole Exome Sequencing (WES)
- Whole Genome Sequencing (WGS)
Our Services
Building upon diagnostic development strategies for Wilson disease, including biomarker analysis and genetic testing, our company focuses on developing high-specificity and high-sensitivity metabolic biomarker detection kits and genetic testing kits tailored for Wilson disease. By creating complementary diagnostic devices, we enable automated and efficient diagnostics, facilitating the management of Wilson disease.
Optional IVD Products
- ATP7B Gene Testing Kit
- Serum Ceruloplasmin Detection Kit
- Urinary Copper Detection Kit
- Primers and Probes
- DNA Extraction and PCR Reagents
- And More
Our offerings extend beyond this scope. To accelerate rapid diagnosis and tailored therapies for Wilson disease, we offer point-of-care testing (POCT) and companion diagnostic development services. These services are vital in improving the effectiveness and precision of Wilson disease diagnostics, facilitating personalized care plans for those impacted.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Chakraborty U, Paria T K. 130 Common Metabolic Disorders: Amyloidosis, Porphyria, and Wilson's Disease[J]. 2021.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
