Primary ciliary dyskinesia (PCD) is a complex genetic disorder that requires specialized diagnostic approaches for accurate identification. Leveraging our pioneering efforts in PCD research, we stand at the forefront of developing cutting-edge diagnostic tools to enhance the effective management of PCD. As your trusted partner in PCD diagnostic research, we provide unparalleled support to meet your research needs.
Introduction to Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is an uncommon genetic disorder impacting the motile cilia that line different organs in the body. These cilia, resembling tiny hairs, are vital for expelling mucus and foreign particles from the respiratory tract, sinuses, ears, and reproductive organs. PCD is characterized by impaired ciliary movement, leading to respiratory symptoms such as chronic cough, runny nose, and recurrent infections. The prevalence of PCD is roughly estimated to be 1 in 10,000 to 1 in 20,000 individuals.
Fig. 1 Ultrastructural abnormalities resulting from mutations in genes responsible for primary ciliary dyskinesia (PCD). (Poprzeczko M, et al., 2019)
Pathogenesis of Prader-Willi Syndrome
Genetic Mutations
The most commonly affected genes in PCD are those encoding proteins essential for ciliary motility, such as DNAH5, DNAI1, and CCDC39.
Ciliary Structure Abnormalities
The gene mutation leads to abnormalities in the ultrastructure of cilia, impairing the coordination of ciliary beating, resulting in ineffective mucus clearance and susceptibility to respiratory infections.
Diagnostic Development for Primary Ciliary Dyskinesia
Developing effective in vitro diagnostics for primary ciliary dyskinesia (PCD) requires a comprehensive understanding of the genetic and functional aspects of the disorder. By employing innovative strategies and technologies, researchers and diagnostic developers can enhance the accuracy and efficiency of diagnostic tests for PCD.
Genetic Testing
Candidate genes known to be involved in ciliary structure and function can be tested quickly and cost-effectively using PCR or NGS technology to identify pathogenic mutations associated with PCD.
Biomarker Detection
PCD individuals often have low nasal nitric oxide (NO) due to impaired ciliary function, so testing nasal NO levels is an important way to screen for the disease. In addition, proteomic analysis can reveal unique protein signatures associated with the pathogenesis of PCD, which can help discover diagnostic markers.
Our Services
Our company is dedicated to investing in advanced technologies and professional talent to facilitate the development of IVD products for primary ciliary dyskinesia (PCD). By overcoming technological constraints, we are able to offer a one-stop solution for the diagnosis of PCD, including the development of genetic testing kits, metabolic biomarker detection kits and complementary diagnostic equipment. Our goal is to optimize cost-effectiveness to the maximum extent and deliver economical and reliable IVD products.
IVD Product Development Services
To achieve prompt diagnosis and personalized therapies for primary ciliary dyskinesia (PCD), we provide point-of-care testing and companion diagnostic development services. These services play a crucial role in enhancing the efficiency and accuracy of PCD diagnostics, enabling personalized care strategies for affected individuals.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Poprzeczko M, Bicka M, Farahat H, et al. Rare human diseases: model organisms in deciphering the molecular basis of primary ciliary dyskinesia[J]. Cells, 2019, 8(12): 1614.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
