Primary Ciliary Dyskinesia (PCD) is a rare, inherited, genetic disorder that affects the function of cilia in the human body. Cilia are tiny, hair-like structures that line various organs, including the lungs, nose, and ears. They play a crucial role in moving mucus and other substances through the airways, protecting the lungs from infection and helping with proper hearing and smell. One of the genes associated with PCD is the DNAH11 gene, and mutations in this gene can lead to PCD Type 7. DNA Labs UAE offers a specialized genetic test for identifying mutations in the DNAH11 gene, aiding in the diagnosis of PCD Type 7. The cost of this genetic test is 4400 AED.
Symptoms of DNAH11 Gene Primary Ciliary Dyskinesia Type 7
PCD Type 7, caused by mutations in the DNAH11 gene, can lead to a variety of symptoms, reflecting the diverse roles of cilia in the human body. It’s important to recognize these symptoms early, as timely diagnosis can significantly impact the management and treatment of the condition.
- Respiratory Issues: One of the hallmark symptoms of PCD is chronic respiratory problems, starting from infancy or early childhood. This includes chronic cough, recurrent chest infections, and bronchitis. Due to the impaired movement of cilia, mucus accumulates in the lungs, leading to these persistent respiratory issues.
- Ear Infections: Individuals with PCD may experience frequent ear infections (otitis media), which can lead to hearing problems if not properly managed. The inability of cilia to clear mucus from the middle ear is a contributing factor.
- Sinusitis: Chronic sinusitis, characterized by inflammation and infection of the sinuses, is common in people with PCD. Symptoms may include nasal congestion, facial pain, and a reduced sense of smell.
- Situs Inversus: Approximately half of the individuals with PCD have a condition known as situs inversus, where the major visceral organs are mirrored from their normal positions. While this condition does not cause symptoms on its own, its presence can be a clue to diagnosing PCD.
Understanding the DNAH11 Gene Primary Ciliary Dyskinesia Type 7 Genetic Test
The genetic test for PCD Type 7 offered by DNA Labs UAE is a comprehensive examination designed to detect mutations in the DNAH11 gene. This test is crucial for confirming the diagnosis of PCD, especially in individuals who exhibit the symptoms mentioned above. Early diagnosis through genetic testing can lead to better management of the condition, potentially improving the quality of life for those affected.
The test is performed using a sample of the patient’s blood or saliva, making it a non-invasive procedure. Once the sample is collected, it undergoes a detailed analysis in the laboratory, where technicians look for specific mutations in the DNAH11 gene that are known to cause PCD Type 7.
The cost of the DNAH11 Gene Primary Ciliary Dyskinesia Type 7 Genetic Test at DNA Labs UAE is 4400 AED. This investment in your health allows for a targeted approach to managing the condition, including tailored treatments and therapies that can address the specific symptoms experienced by the individual.
Conclusion
Primary Ciliary Dyskinesia Type 7 is a challenging condition, but understanding its symptoms and the availability of genetic testing can significantly aid in its management. The DNAH11 gene test provided by DNA Labs UAE is a valuable tool for individuals and families seeking answers about this rare disorder. By identifying the genetic cause of PCD, affected individuals can receive personalized care and interventions, potentially improving their overall health and quality of life.
