Short Description

NGS genetic DNA test detecets for variant and mutation detection in CCDC114 gene for Primary ciliary dyskinesia type 20

PreTest Information

Clinical History of Patient who is going for SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test gene SLC52A18

Detail Description

Understanding CCDC114 Gene and Primary Ciliary Dyskinesia Type 20: Symptoms, Diagnosis, and DNA Testing Cost in India

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the function of cilia, which are tiny hair-like structures that line the respiratory tract, ears, and other parts of the body. PCD can cause a range of symptoms, including chronic respiratory infections, hearing loss, and infertility. One of the genes associated with PCD is CCDC114, which is involved in the structure and function of cilia.

Symptoms of Primary Ciliary Dyskinesia Type 20

PCD can manifest in different ways depending on the severity of the genetic mutation and the affected organs. Some of the common symptoms of PCD include:

• Chronic cough and congestion
• Recurrent sinus infections
• Wheezing and shortness of breath
• Ear infections and hearing loss
• Nasal polyps
• Fertility problems

In some cases, PCD can also affect the heart, leading to congenital heart defects or arrhythmias.

Diagnosis of Primary Ciliary Dyskinesia Type 20

Diagnosing PCD can be challenging, as the symptoms can overlap with other respiratory conditions. However, there are several tests that can help confirm the diagnosis:

• High-speed video microscopy: This test involves taking a sample of nasal or bronchial cells and observing their ciliary motion under a high-speed camera. Abnormal ciliary motion can indicate PCD.
• Nasal nitric oxide test: This test measures the levels of nitric oxide in the nasal cavity, which is typically low in PCD patients.
• Chest CT scan: This imaging test can reveal abnormalities in the lungs and airways, which are common in PCD.
• Genetic testing: This involves analyzing the DNA of the patient for mutations in genes associated with PCD, such as CCDC114.

It's important to note that PCD is a genetic disorder, which means that it can be passed down from parents to children. Therefore, if one or both parents have PCD or carry a PCD-related gene mutation, their children may also be at risk.

DNA Testing Cost for CCDC114 Gene in India

If you suspect that you or a family member may have PCD, getting a genetic test can help confirm the diagnosis and guide treatment. In India, the cost of a Next-Generation Sequencing (NGS) test for CCDC114 gene mutation detection is around INR 20,000. This test involves analyzing the patient's DNA for mutations in the CCDC114 gene, which can help identify the specific type of PCD and guide treatment.

It's important to choose a reputable DNA testing lab that uses advanced technology and has a team of experienced geneticists and counselors. DNA Labs India is a leading provider of genetic testing services in India, offering a range of DNA tests for various health conditions, including PCD. Their NGS test for CCDC114 gene mutation detection is highly accurate and reliable, with a turnaround time of 3-4 weeks. They also provide pre- and post-test counseling to help patients and their families understand the implications of the test results.

Conclusion

PCD is a rare genetic disorder that can cause a range of symptoms, from respiratory infections to infertility. CCDC114 is one of the genes associated with PCD, and getting a genetic test can help confirm the diagnosis and guide treatment. DNA Labs India offers a reliable and affordable NGS test for CCDC114 gene mutation detection, with a turnaround time of 3-4 weeks. If you suspect that you or a family member may have PCD, don't hesitate to get tested and seek medical advice.