Short Description

NGS genetic DNA test detecets for variant and mutation detection in CCDC65 gene for Primary ciliary dyskinesia type 27

PreTest Information

Clinical History of Patient who is going for EYA1 Gene Branchiootic syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EYA1 Gene Branchiootic syndrome type 1 NGS Genetic DNA Test gene EYA18

Detail Description

CCDC65 Gene: Primary Ciliary Dyskinesia Type 27 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the respiratory system. It is caused by mutations in genes that are responsible for the proper functioning of cilia, the tiny hair-like structures that line the respiratory tract. These mutations can result in a range of respiratory symptoms, such as chronic coughing, wheezing, and recurrent infections.

One of the genes that can be affected in PCD is CCDC65. This gene encodes a protein that is involved in the formation of cilia. Mutations in CCDC65 can result in a specific subtype of PCD known as PCD type 27.

Symptoms of PCD Type 27

The symptoms of PCD type 27 are similar to those of other types of PCD. They include:

• Chronic coughing
• Wheezing
• Recurrent respiratory infections, such as pneumonia and bronchitis
• Difficulty breathing
• Nasal congestion and sinus infections
• Ear infections
• Reduced sense of smell

Diagnosis of PCD Type 27

Diagnosis of PCD type 27 typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Imaging studies, such as high-resolution computed tomography (HRCT) scans, can help identify structural abnormalities in the respiratory tract. Genetic testing, such as NGS genetic DNA testing, can identify mutations in genes associated with PCD, including CCDC65.

NGS Genetic DNA Test for PCD Type 27

NGS genetic DNA testing is a powerful tool for identifying mutations in genes associated with PCD. This type of testing can detect mutations in multiple genes simultaneously, making it an efficient and cost-effective diagnostic tool.

The cost of NGS genetic DNA testing for PCD type 27 is typically around INR:20000. This may vary depending on the specific testing facility and the location.

Conclusion

PCD type 27 is a rare subtype of primary ciliary dyskinesia that is caused by mutations in the CCDC65 gene. Symptoms of PCD type 27 include chronic coughing, wheezing, and recurrent respiratory infections. Diagnosis typically involves a combination of clinical evaluation, imaging studies, and genetic testing, including NGS genetic DNA testing. The cost of NGS genetic DNA testing for PCD type 27 is typically around INR:20000.

At DNA Labs India, we offer comprehensive genetic testing services for a range of genetic disorders, including PCD type 27. Our state-of-the-art laboratory and experienced team of geneticists ensure accurate and reliable results. Contact us today to learn more about our services and how we can help you.