Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNAL1 gene for Primary ciliary dyskinesia type 16

PreTest Information

Clinical History of Patient who is going for PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test gene PTPN38

Detail Description

DNAL1 Gene Primary Ciliary Dyskinesia Type 16 NGS Genetic DNA Test

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the functioning of cilia, which are tiny hair-like structures that line the airways, sinuses, and reproductive tract. PCD can cause chronic respiratory infections, sinusitis, and infertility. DNAL1 gene is one of the genes associated with PCD, specifically type 16.

Symptoms of PCD type 16

The symptoms of PCD type 16 can vary from person to person, but they usually include:

• Chronic cough
• Wheezing
• Shortness of breath
• Recurrent pneumonia
• Chronic sinusitis
• Infertility

Diagnosis of PCD type 16

Diagnosis of PCD type 16 involves a combination of clinical evaluation, imaging studies, and genetic testing. A high-resolution computed tomography (HRCT) scan of the chest can reveal abnormalities in the lungs, while a nasal nitric oxide test can detect low levels of nitric oxide in the sinuses, which is a sign of PCD.

Genetic testing is also an important tool for diagnosing PCD type 16. Next-generation sequencing (NGS) is a powerful technology that can sequence multiple genes simultaneously and detect mutations in the DNAL1 gene. This can help confirm the diagnosis of PCD type 16 and guide treatment decisions.

DNAL1 Gene Primary Ciliary Dyskinesia Type 16 NGS Genetic DNA Test Cost

The cost of the DNAL1 gene primary ciliary dyskinesia type 16 NGS genetic DNA test in India is approximately INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in the country. The test involves a simple blood or saliva sample, which is sent to the laboratory for analysis. Results are usually available within 2-3 weeks.

Conclusion

Primary ciliary dyskinesia type 16 is a rare genetic disorder that can cause respiratory and sinus infections, as well as infertility. Genetic testing, including NGS, can help diagnose PCD type 16 and guide treatment decisions. The cost of the DNAL1 gene primary ciliary dyskinesia type 16 NGS genetic DNA test in India is approximately INR 20,000.

If you or a loved one are experiencing symptoms of PCD type 16, it is important to seek medical attention and consider genetic testing. DNA Labs India offers a range of genetic testing services, including the DNAL1 gene primary ciliary dyskinesia type 16 NGS genetic DNA test.

Contact DNA Labs India today to learn more about our genetic testing services and how we can help you.