DNAH5 Gene Primary Ciliary Dyskinesia Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Respiratory Health
The DNAH5 Gene Primary Ciliary Dyskinesia Type 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Primary Ciliary Dyskinesia (PCD). This specialized test utilizes Next-Generation Sequencing technology to analyze the DNAH5 gene, which plays a critical role in ciliary structure and function. Cilia are microscopic, hair-like structures that line the respiratory tract and other organs, responsible for moving mucus and debris out of the airways. When DNAH5 gene mutations occur, they disrupt normal ciliary movement, leading to the characteristic symptoms of PCD Type 3.
What Does This Test Detect?
This advanced genetic test specifically identifies:
- Pathogenic mutations in the DNAH5 gene associated with PCD Type 3
- Variants that disrupt dynein arm formation in cilia
- Genetic abnormalities affecting ciliary motility and function
- Inherited patterns of PCD transmission within families
- Specific mutation types including missense, nonsense, and frameshift variants
Technical Methodology
Our NGS technology provides comprehensive coverage of the DNAH5 gene, ensuring high sensitivity and specificity in mutation detection. The test analyzes all coding regions and flanking intronic sequences to identify both known and novel genetic variants.
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Chronic respiratory infections beginning in infancy or childhood
- Persistent nasal congestion and sinusitis
- Recurrent middle ear infections and hearing loss
- Chronic cough with productive sputum
- Bronchiectasis diagnosed at a young age
- Neonatal respiratory distress without clear cause
- Family history of Primary Ciliary Dyskinesia
- Unexplained fertility issues in males (situs inversus may be present)
Clinical Indications
ENT specialists often recommend this test when patients present with classic PCD symptoms that don’t respond to conventional treatments. Early genetic testing can prevent years of misdiagnosis and inappropriate treatments.
Benefits of DNAH5 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of PCD Type 3
- Personalized Treatment: Enables targeted management strategies for respiratory symptoms
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt initiation of appropriate therapies to preserve lung function
- Disease Monitoring: Establishes baseline for tracking disease progression and treatment response
- Research Contribution: Helps advance understanding of PCD and potential future treatments
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
Positive Result
A positive result indicates the presence of pathogenic mutations in the DNAH5 gene confirming Primary Ciliary Dyskinesia Type 3 diagnosis. This information allows for:
- Implementation of specialized respiratory care protocols
- Regular monitoring for complications like bronchiectasis
- Genetic counseling for family members
- Appropriate fertility counseling when needed
Negative Result
A negative result suggests that DNAH5 gene mutations were not detected, though it doesn’t completely rule out PCD, as other genetic forms exist. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
Some genetic changes may be classified as VUS, meaning their clinical significance is currently unknown. These results require careful interpretation by genetic specialists and may need family studies for clarification.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | DNAH5 Gene Primary Ciliary Dyskinesia Type 3 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Nationwide Testing Availability
We have branches across the United States, making genetic testing accessible to patients in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take Control of Your Respiratory Health Today
Don’t let unexplained respiratory symptoms compromise your quality of life. The DNAH5 Gene Primary Ciliary Dyskinesia Type 3 NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. Our team of genetic specialists and ENT doctors are ready to help you understand your genetic profile and develop an effective treatment plan.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and personalized care.
Early genetic testing can make a significant difference in managing Primary Ciliary Dyskinesia and preserving long-term respiratory function. Contact us now to book your appointment at one of our conveniently located testing centers across the USA.
