RSPH4A Gene Primary Ciliary Dyskinesia Type 11 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Primary Ciliary Dyskinesia
The RSPH4A Gene Primary Ciliary Dyskinesia Type 11 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RSPH4A gene, which plays a critical role in ciliary structure and function. Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting approximately 1 in 15,000-20,000 individuals worldwide, characterized by impaired ciliary movement that leads to chronic respiratory and sinus complications.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the RSPH4A gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the RSPH4A gene
- Autosomal recessive inheritance patterns associated with PCD Type 11
- Genetic variations affecting radial spoke head protein function
- Mutations that disrupt normal ciliary beating and mucociliary clearance
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Chronic respiratory infections beginning in infancy or early childhood
- Persistent nasal congestion and sinusitis unresponsive to conventional treatments
- Recurrent middle ear infections and hearing loss
- Chronic wet cough and bronchiectasis
- Infertility issues in males due to impaired sperm motility
- Family history of Primary Ciliary Dyskinesia or related respiratory conditions
- Situs inversus (organs on opposite sides of the body) in approximately 50% of cases
Clinical Benefits of Genetic Testing
Undergoing the RSPH4A gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out PCD Type 11 with high precision
- Personalized Treatment: Enables targeted management strategies for respiratory symptoms
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management to prevent lung damage
- Differential Diagnosis: Helps distinguish PCD from other chronic respiratory conditions
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Identifies pathogenic mutations in both copies of the RSPH4A gene, confirming PCD Type 11 diagnosis
- Negative Result: No disease-causing mutations detected, though other genetic causes of PCD may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who are typically asymptomatic but can pass the condition to offspring
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health
Don’t let uncertainty about your respiratory health or genetic risks hold you back. Our specialized team of genetic counselors and ENT specialists are ready to guide you through the testing process and help interpret your results. With rapid turnaround times of 3-4 weeks and comprehensive support services, we make genetic testing accessible and understandable.
Ready to schedule your RSPH4A Gene Primary Ciliary Dyskinesia Type 11 NGS Genetic DNA Test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online to take the first step toward genetic clarity and personalized healthcare management.
