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DNAAF3 Gene Primary ciliary dyskinesia type 2 NGS Genetic DNA Test Cost 20000 Rs
DNAAF3 Gene Primary ciliary dyskinesia type 2 NGS Genetic DNA Test Details
DNAAF3 Gene and Primary Ciliary Dyskinesia Type 2: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that affects the respiratory tract, causing chronic respiratory infections, sinusitis, and bronchiectasis. The DNAAF3 gene is one of the genes that have been identified as being involved in PCD. In this blog post, we will discuss the symptoms and diagnosis of PCD type 2, the role of the DNAAF3 gene in PCD, and the cost of NGS genetic DNA testing for this disorder.
Symptoms of PCD Type 2
PCD type 2 is a subtype of PCD that is caused by mutations in the DNAAF3 gene. The symptoms of PCD type 2 are similar to those of other subtypes of PCD and include:
- Chronic cough
- Chronic respiratory infections
- Sinusitis
- Ear infections
- Shortness of breath
- Nasal congestion
- Fatigue
- Pneumonia
- Wheezing
- Difficulty breathing
These symptoms can vary in severity and may worsen over time.
Diagnosis of PCD Type 2
Diagnosis of PCD type 2 can be challenging, as the symptoms are similar to those of other respiratory conditions. A diagnosis of PCD type 2 is typically made based on a combination of clinical symptoms, imaging studies, and genetic testing.
Imaging studies, such as a high-resolution computed tomography (HRCT) scan, can reveal characteristic abnormalities in the respiratory tract that are indicative of PCD. Genetic testing can also be used to confirm a diagnosis of PCD type 2 by identifying mutations in the DNAAF3 gene.
The Role of the DNAAF3 Gene in PCD
The DNAAF3 gene provides instructions for making a protein called axonemal dynein assembly factor 3, which is essential for the proper functioning of cilia. Cilia are hair-like structures that line the respiratory tract and are responsible for clearing mucus and debris from the lungs.
Mutations in the DNAAF3 gene can disrupt the function of cilia, leading to impaired clearance of mucus and debris from the respiratory tract. This can result in chronic respiratory infections, sinusitis, and bronchiectasis, which are characteristic of PCD.
NGS Genetic DNA Test Cost for PCD Type 2
Next-generation sequencing (NGS) genetic DNA testing can be used to identify mutations in the DNAAF3 gene and confirm a diagnosis of PCD type 2. The cost of NGS genetic DNA testing for PCD type 2 in India is approximately INR 20,000.
NGS genetic DNA testing is a highly sensitive and specific diagnostic tool that can provide a definitive diagnosis of PCD type 2. It can also be used to identify carriers of PCD type 2 mutations, which can be helpful for family planning and genetic counseling.
Conclusion
PCD type 2 is a rare genetic disorder that is caused by mutations in the DNAAF3 gene. The symptoms of PCD type 2 are similar to those of other subtypes of PCD and can be challenging to diagnose. NGS genetic DNA testing can be used to confirm a diagnosis of PCD type 2 and is a valuable diagnostic tool for this disorder. The cost of NGS genetic DNA testing for PCD type 2 in India is approximately INR 20,000.
