RSPH1 Gene Primary Ciliary Dyskinesia Type 24 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Ciliary Function Disorders
The RSPH1 Gene Primary Ciliary Dyskinesia Type 24 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals suffering from chronic respiratory conditions and ciliary dysfunction disorders. This advanced genetic test specifically targets mutations in the RSPH1 gene, which plays a critical role in the proper formation and function of motile cilia throughout the human body.
What Does This Test Measure?
Our comprehensive NGS-based genetic test analyzes the complete coding region of the RSPH1 gene to identify:
- Pathogenic mutations causing Primary Ciliary Dyskinesia Type 24
- Single nucleotide variants (SNVs) affecting ciliary protein structure
- Insertions and deletions that disrupt normal ciliary function
- Copy number variations impacting gene dosage
- Splice site mutations that alter protein production
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Chronic respiratory infections beginning in infancy or early childhood
- Persistent nasal congestion and sinusitis unresponsive to conventional treatments
- Recurrent middle ear infections and hearing problems
- Chronic cough with sputum production
- Bronchiectasis confirmed by imaging studies
- Neonatal respiratory distress without clear cause
- Laterality defects such as situs inversus
- Male infertility due to impaired sperm motility
- Family history of Primary Ciliary Dyskinesia or related disorders
Clinical Benefits of Genetic Testing
Undergoing the RSPH1 Gene Primary Ciliary Dyskinesia Type 24 test provides numerous clinical advantages:
- Accurate Diagnosis: Differentiate PCD from other respiratory conditions with similar symptoms
- Personalized Treatment: Develop targeted management strategies based on genetic findings
- Early Intervention: Implement proactive measures to prevent complications
- Family Planning: Make informed reproductive decisions with genetic counseling
- Prognostic Information: Understand disease progression and potential complications
- Research Contribution: Contribute to ongoing studies of ciliary disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies specific RSPH1 gene mutations confirming Primary Ciliary Dyskinesia Type 24 diagnosis
- Negative Result: No pathogenic variants detected in RSPH1 gene, suggesting alternative causes for symptoms
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results include detailed interpretation by our board-certified genetic specialists and recommendations for next steps in clinical management.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | RSPH1 Gene Primary Ciliary Dyskinesia Type 24 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) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history documenting respiratory symptoms and related conditions
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Referral from your ENT specialist or primary care physician
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Better Health
Don’t let unexplained respiratory symptoms control your life. The RSPH1 Gene Primary Ciliary Dyskinesia Type 24 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and effective treatment planning. Our team of genetic specialists and ENT doctors are ready to help you understand your genetic profile and develop a personalized management strategy.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your respiratory health.
Early genetic testing can make a significant difference in managing Primary Ciliary Dyskinesia and improving long-term outcomes. Contact us now to book your appointment and begin your journey toward accurate diagnosis and targeted treatment.
