Short Description

NGS genetic DNA test detecets for variant and mutation detection in RSPH1 gene for Primary ciliary dyskinesia type 24

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 PTPN39

Detail Description

RSPH1 Gene Primary ciliary dyskinesia type 24 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the structure and function of cilia in the respiratory tract, causing chronic respiratory infections, bronchiectasis, and infertility. PCD is caused by mutations in genes that encode proteins involved in ciliary structure and function. One such gene is RSPH1, which is associated with PCD type 24.

The RSPH1 gene provides instructions for making a protein called radial spoke head 1, which is a component of the radial spoke complex within cilia. The radial spoke complex is important for the proper movement of cilia, which helps to clear mucus and bacteria from the respiratory tract. Mutations in the RSPH1 gene can disrupt the function of the radial spoke complex and lead to PCD type 24.

NGS Genetic DNA Test for RSPH1 Gene PCD Type 24

A Next Generation Sequencing (NGS) genetic DNA test can be performed to detect mutations in the RSPH1 gene associated with PCD type 24. This test uses advanced sequencing technology to analyze the DNA sequence of the RSPH1 gene and identify any mutations or variations that may be present.

The NGS genetic DNA test for RSPH1 gene PCD type 24 is a highly accurate and reliable method of diagnosis. It can help doctors to confirm a suspected diagnosis of PCD and provide information about the specific genetic mutation that is causing the disorder. This can be useful for predicting the severity of the disease, monitoring disease progression, and providing genetic counseling for affected individuals and their families.

Symptoms of PCD Type 24

The symptoms of PCD type 24 are similar to those of other types of PCD and may include:

• Chronic cough
• Recurrent respiratory infections
• Wheezing
• Shortness of breath
• Nasal congestion
• Sinus infections
• Ear infections
• Infertility

The symptoms of PCD can vary in severity and may be present from birth or develop later in life. In some cases, the symptoms may be mild and go unrecognized for many years.

Diagnosis of PCD Type 24

Diagnosis of PCD type 24 typically involves a combination of clinical evaluation, imaging tests, and genetic testing. A doctor may perform a physical examination, review the patient's medical history, and order imaging tests such as a chest X-ray or CT scan to look for signs of respiratory tract abnormalities.

If PCD is suspected, genetic testing may be performed to identify the specific genetic mutation causing the disorder. The NGS genetic DNA test for RSPH1 gene PCD type 24 is a highly accurate and reliable method of diagnosis.

Cost of NGS Genetic DNA Test for RSPH1 Gene PCD Type 24

The cost of the NGS genetic DNA test for RSPH1 gene PCD type 24 in India is approximately INR 20,000. The cost may vary depending on the testing facility and the specific tests ordered.

Conclusion

PCD type 24 is a rare genetic disorder caused by mutations in the RSPH1 gene. A Next Generation Sequencing (NGS) genetic DNA test can be performed to detect mutations in the RSPH1 gene and confirm a diagnosis of PCD type 24. The test is highly accurate and reliable and can provide important information for predicting disease severity, monitoring disease progression, and providing genetic counseling. The cost of the NGS genetic DNA test for RSPH1 gene PCD type 24 in India is approximately INR 20,000.

If you suspect you or your family member may have PCD type 24, it is important to seek medical attention and discuss the possibility of genetic testing with your doctor.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for PCD type 24. Contact us today to learn more about our services and how we can help you.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for RSPH1 Gene Primary ciliary dyskinesia type 24 NGS Genetic DNA Test