Von Hippel-Lindau (VHL) disease is a complex genetic disorder. Our company is dedicated to advancing the field of VHL 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 VHL pathogenesis and diagnostic challenges, fundamentally transforming the detection and management of this genetic disorder.
Introduction to Von Hippel-Lindau Disease
Von Hippel-Lindau (VHL) disease is a rare genetic disorder characterized by the development of tumors and cysts in various parts of the body. The condition is caused by mutations in the VHL gene, which plays a crucial role in regulating cell growth. The estimated prevalence of VHL is 1 in every 36,000 individuals.
Fig. 1 Pathological mechanisms of Von Hippel-Lindau (VHL) disease. (Shepherd S T C, et al., 2023)
Diagnostic Biomarkers for Von Hippel-Lindau Disease
The identification and validation of reliable in vitro diagnostic (IVD) biomarkers are crucial for the early detection and management of Von Hippel-Lindau (VHL) disease. Here are key biomarkers that hold promise for the diagnosis and monitoring of VHL:
Vascular Endothelial Growth Factor (VEGF)
Elevated levels of VEGF have been associated with VHL-associated tumors, particularly hemangioblastomas. Measurement of VEGF levels in blood or tissue samples can serve as a biomarker for assessing tumor angiogenesis and disease progression in VHL.
Carbonic Anhydrase IX (CA9)
Hypoxia is a common feature of VHL tumors. CA9 is a hypoxia-inducible enzyme, and its expression is upregulated in VHL. Detecting the expression levels of CA9 helps in diagnosing clear cell renal cell carcinoma and other VHL-related tumors.
Hypoxia-Inducible Factors (HIFs)
VHL gene mutations lead to the stabilization of HIFs, transcription factors that regulate genes involved in oxygen homeostasis and angiogenesis. Monitoring HIF protein levels can provide insights into the hypoxic microenvironment within VHL tumors.
MicroRNAs (miRNAs)
Dysregulation of specific miRNAs has been implicated in VHL tumorigenesis and progression. Profiling miRNA expression patterns in VHL tissues or biofluids could offer novel biomarkers for the early detection and stratification of VHL-related lesions.
IVD Development for Von Hippel-Lindau Disease
In vitro diagnostics (IVD) play a crucial role in the management of Von Hippel-Lindau disease (VHL) due to its complex and varied clinical manifestations involving multiple organ systems. Developing effective IVD tools for VHL involves a multi-faceted approach that integrates genetic testing and biomarker analysis.
Genetic testing is conducted to identify mutations in the VHL gene. NGS is employed to scrutinize the complete coding sequence of the VHL gene for mutation identification. MLPA is capable of identifying numerous deletions or duplications within the VHL gene.
Biomarker analysis helps in the diagnosis, prognosis, and monitoring of VHL. Immunohistochemistry and ELISA are utilized to quantify levels of biomarkers such as VEGF, CA9, HIFs, miRNAs in samples, providing quantitative data for analysis.
Our Services
Through in-depth research on the pathogenesis and diagnostic biomarkers of Von Hippel-Lindau disease (VHL), our scientists have worked tirelessly to develop in vitro diagnostic products for VHL. Our company specializes in creating highly specific genetic testing kits for identifying mutations in the VHL gene. Through advanced biochemical and immunoassay methods, we have developed specialized kits for VHL biomarkers to facilitate precise diagnosis and disease monitoring of VHL.
Through the creation of advanced complementary diagnostic devices, we streamline the diagnostic workflow for Von Hippel-Lindau disease (VHL), enhancing its automation and efficiency. We offer point-of-care testing and companion diagnostic development services to expedite the diagnosis and precise therapies of VHL, facilitating timely and accurate intervention.
IVD Device Development Services
Optional IVD Products
- VHL Gene Testing Kit
- VEGF Detection Kit
- CA9 Detection Kit
- HIFs Detection Kit
- miRNAs Detection Kit
- And More
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Shepherd S T C, Drake W M, Turajlic S. The road to systemic therapy in von Hippel-Lindau (VHL) disease: Are we there yet?[J]. European Journal of Cancer, 2023, 182: 15-22.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
