Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that affects the function of cilia, the microscopic, hair-like structures that line the airways, reproductive system, and other parts of the body. Among the various types of PCD, Type 20, caused by mutations in the CCDC114 gene, is particularly significant due to its unique symptoms and implications for affected individuals. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing crucial information for diagnosis and management.
Symptoms of CCDC114 Gene Primary Ciliary Dyskinesia Type 20
Understanding the symptoms of CCDC114 Gene Primary Ciliary Dyskinesia Type 20 is vital for early diagnosis and treatment. The symptoms are often present from birth or early childhood and can vary in severity among individuals. Key symptoms include:
- Chronic respiratory infections: Individuals with PCD Type 20 frequently experience recurrent respiratory infections, including bronchitis and pneumonia, due to impaired cilia function in the lungs.
- Situs inversus: Approximately half of the individuals with PCD, including those with mutations in the CCDC114 gene, have situs inversus, a condition where the major visceral organs are reversed or mirrored from their normal positions.
- Chronic sinusitis and ear infections: Impaired ciliary function leads to a buildup of mucus in the sinuses and ears, resulting in frequent infections and hearing problems.
- Infertility: In some cases, PCD Type 20 can affect fertility in both men and women due to the role of cilia in reproductive processes.
Recognizing these symptoms early on can lead to timely genetic testing and diagnosis, enabling appropriate management strategies to be implemented.
CCDC114 Gene Primary Ciliary Dyskinesia Type 20 Genetic Test at DNA Labs UAE
DNA Labs UAE is at the forefront of genetic testing for rare conditions, including PCD Type 20. The test specifically looks for mutations in the CCDC114 gene, which are indicative of this type of PCD. The process is straightforward and involves collecting a DNA sample, typically through a blood draw or a cheek swab.
The cost of the CCDC114 Gene Primary Ciliary Dyskinesia Type 20 Genetic Test is 4400 AED. While the price may seem significant, the value of the information it provides cannot be overstated. A definitive genetic diagnosis can guide treatment decisions, inform family planning, and potentially prevent serious complications associated with the condition.
For more information on the test and how to proceed with testing, please visit DNA Labs UAE.
Conclusion
Primary Ciliary Dyskinesia Type 20, caused by mutations in the CCDC114 gene, is a condition with significant health implications. Recognizing the symptoms early and opting for genetic testing can make a substantial difference in the management of the condition. DNA Labs UAE offers a comprehensive genetic test for PCD Type 20, providing families with the information necessary to navigate this challenging diagnosis. With the right support and medical care, individuals with PCD can lead full and active lives.
