CCDC114 Gene Primary Ciliary Dyskinesia Type 20 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Primary Ciliary Dyskinesia
The CCDC114 Gene Primary Ciliary Dyskinesia Type 20 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Primary Ciliary Dyskinesia (PCD), a rare inherited disorder affecting ciliary function throughout the body. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate, reliable results for patients and healthcare providers seeking definitive diagnosis of PCD Type 20.
What Does This Test Measure?
This advanced genetic test specifically targets the CCDC114 gene, which plays a crucial role in the proper formation and function of motile cilia. The test detects:
- Pathogenic variants and mutations in the CCDC114 gene coding regions
- Single nucleotide polymorphisms (SNPs) affecting ciliary protein structure
- Insertions, deletions, and copy number variations impacting gene function
- Genetic markers associated with impaired mucociliary clearance
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Primary Ciliary Dyskinesia, including:
- Chronic respiratory infections beginning in infancy or early childhood
- Persistent sinusitis and nasal congestion unresponsive to conventional treatments
- Recurrent middle ear infections and hearing difficulties
- Chronic cough with excessive mucus production
- Bronchiectasis or abnormal lung development
- Situs inversus (organs positioned on opposite sides of the body)
- Male infertility due to impaired sperm motility
- Family history of Primary Ciliary Dyskinesia or related respiratory conditions
Clinical Benefits of Genetic Testing
Early and accurate diagnosis through CCDC114 gene testing provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out PCD Type 20 with high accuracy
- Personalized Treatment: Enables targeted management strategies for respiratory symptoms
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Facilitates early intervention to prevent complications
- Comprehensive Care: Supports multidisciplinary approach involving ENT specialists, pulmonologists, and genetic counselors
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic CCDC114 gene mutations confirming PCD Type 20 diagnosis
- Negative Result: Suggests absence of detectable mutations in the CCDC114 gene, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CCDC114 Gene Primary Ciliary Dyskinesia Type 20 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 |
| Specialty | ENT Doctor, Genetics Department |
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss implications and create family pedigree
- Review of symptoms and family history with healthcare provider
- Understanding of potential outcomes and their impact on treatment decisions
Nationwide Testing Availability
We proudly offer our 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 network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Health Today
Don’t let uncertainty about your respiratory health continue. The CCDC114 Gene Primary Ciliary Dyskinesia Type 20 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and help interpret your results.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or speak with our genetic specialists. Take the first step toward definitive diagnosis and personalized care.
