Short Description

NGS genetic DNA test detecets for variant and mutation detection in CCDC40 gene for Primary ciliary dyskinesia type 15

PreTest Information

Clinical History of Patient who is going for IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test gene IARS17

Detail Description

CCDC40 Gene Primary Ciliary Dyskinesia Type 15 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the respiratory tract, causing chronic respiratory infections, and leading to bronchiectasis. PCD is caused by mutations in several genes, including the CCDC40 gene. CCDC40 gene mutations cause PCD Type 15, which accounts for about 10% of PCD cases. The NGS Genetic DNA Test for CCDC40 gene mutations is available in India at a cost of INR 20000.

Symptoms of Primary Ciliary Dyskinesia Type 15

The symptoms of PCD Type 15 are similar to those of other types of PCD. These include:

• Chronic cough
• Recurrent respiratory infections, such as pneumonia and bronchitis
• Wheezing
• Nasal congestion
• Sinusitis
• Ear infections
• Shortness of breath
• Frequent chest infections
• Infertility

Diagnosis of Primary Ciliary Dyskinesia Type 15

Diagnosing PCD can be challenging, as the symptoms are similar to other respiratory conditions, and not all patients with PCD have the same symptoms. However, the following tests can help diagnose PCD:

• High-speed videomicroscopy (HSV) of cilia
• Transmission electron microscopy (TEM) of cilia
• Nasal nitric oxide (nNO) measurement
• Genetic testing

The NGS Genetic DNA Test for CCDC40 gene mutations is a highly accurate test for diagnosing PCD Type 15. This test analyzes the patient's DNA for mutations in the CCDC40 gene.

Cost of NGS Genetic DNA Test for CCDC40 Gene Mutations

The cost of the NGS Genetic DNA Test for CCDC40 gene mutations is INR 20000 in India. This test is available at DNA Labs India, a leading genetic testing laboratory in India.

Conclusion

PCD Type 15 is a rare genetic disorder caused by mutations in the CCDC40 gene. The NGS Genetic DNA Test for CCDC40 gene mutations is a highly accurate test for diagnosing PCD Type 15, and it is available in India at a cost of INR 20000. If you or a loved one have symptoms of PCD, it is important to get tested and diagnosed as soon as possible to prevent complications and improve the quality of life.

At DNA Labs India, we offer a wide range of genetic testing services, including the NGS Genetic DNA Test for CCDC40 gene mutations. Our team of experts is committed to providing accurate and reliable genetic testing services to help patients and healthcare providers make informed decisions about their health. Contact us today to learn more about our genetic testing services.