Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNAH5 gene for Primary ciliary dyskinesia type 3

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 IARS19

Detail Description

Everything You Need to Know About DNAH5 Gene and Primary Ciliary Dyskinesia Type 3

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that affects the motile cilia and flagella in the respiratory tract, middle ear, and reproductive system. The cilia and flagella are hair-like structures that help in the movement of mucus and other substances in the body. PCD can cause chronic respiratory infections, hearing loss, and infertility. There are several types of PCD, and DNAH5 gene mutation is one of them.

What is the DNAH5 Gene?

The DNAH5 gene is located on chromosome 5 and provides instructions for making a protein called dynein axonemal heavy chain 5. This protein is a part of the dynein complex, which is responsible for the movement of cilia and flagella. A mutation in the DNAH5 gene can cause primary ciliary dyskinesia type 3 (PCD3).

What is Primary Ciliary Dyskinesia Type 3?

Primary Ciliary Dyskinesia Type 3 (PCD3) is a rare genetic disorder that affects the motile cilia and flagella in the respiratory tract, middle ear, and reproductive system. PCD3 is caused by a mutation in the DNAH5 gene, which results in the impairment of cilia and flagella movement. This can cause chronic respiratory infections, hearing loss, and infertility.

What are the Symptoms of PCD3?

PCD3 can cause a range of symptoms, including:

• Chronic cough
• Recurrent respiratory infections
• Difficulty breathing
• Sinusitis
• Ear infections
• Hearing loss
• Infertility

How is PCD3 Diagnosed?

Diagnosing PCD3 can be challenging as its symptoms are similar to other respiratory diseases. A doctor may suspect PCD3 based on a patient's symptoms, family history, and a physical exam. A definitive diagnosis of PCD3 can be made through genetic testing, such as Next Generation Sequencing (NGS) Genetic DNA Test. This test can detect mutations in the DNAH5 gene and confirm a diagnosis of PCD3.

What is the Cost of NGS Genetic DNA Test for PCD3?

The cost of NGS Genetic DNA Test for PCD3 in India is around INR 20,000. This test is available at DNA Labs India, which is a leading genetic testing laboratory in India. DNA Labs India offers a range of genetic tests, including NGS Genetic DNA Test for PCD3, at an affordable cost.

Conclusion

PCD3 is a rare genetic disorder that can cause chronic respiratory infections, hearing loss, and infertility. A mutation in the DNAH5 gene is responsible for PCD3. NGS Genetic DNA Test can confirm a diagnosis of PCD3 by detecting mutations in the DNAH5 gene. The cost of NGS Genetic DNA Test for PCD3 in India is around INR 20,000. If you suspect that you or your child has PCD3, consult a doctor and consider genetic testing.

For more information about genetic testing, visit DNA Labs India website.