CCDC40 Gene Primary Ciliary Dyskinesia Type 15 NGS Genetic DNA Test
Understanding CCDC40 Gene Primary Ciliary Dyskinesia Type 15
Primary Ciliary Dyskinesia (PCD) Type 15 is a rare genetic disorder affecting the structure and function of cilia – microscopic hair-like structures that line the respiratory tract, reproductive system, and other organs. The CCDC40 gene plays a critical role in the proper assembly and function of motile cilia, and mutations in this gene lead to impaired ciliary movement, resulting in chronic respiratory issues and other systemic complications.
What This Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically analyzes the CCDC40 gene to identify pathogenic variants responsible for Primary Ciliary Dyskinesia Type 15. The test provides comprehensive coverage of:
- Complete sequencing of the CCDC40 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with PCD Type 15
- Assessment of novel variants with clinical significance
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 childhood
- Persistent sinusitis and nasal congestion
- Recurrent middle ear infections (otitis media)
- Chronic cough with sputum production
- Bronchiectasis confirmed by imaging studies
- Situs inversus (organs positioned on opposite side of body)
- Male infertility due to impaired sperm motility
- Female subfertility related to fallopian tube ciliary dysfunction
- Family history of Primary Ciliary Dyskinesia
Benefits of Genetic Testing for CCDC40 Mutations
Early genetic diagnosis through our CCDC40 Gene Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of PCD Type 15
- Personalized Treatment: Enables targeted management strategies for respiratory symptoms
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management to prevent complications
- Comprehensive Care: Guides multidisciplinary approach involving ENT specialists, pulmonologists, and genetic counselors
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Identifies pathogenic mutations in the CCDC40 gene confirming Primary Ciliary Dyskinesia Type 15 diagnosis
- Negative Result: No pathogenic variants detected in the CCDC40 gene, though other genetic causes of PCD may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
All results include detailed explanations and recommendations for next steps in management and family screening.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | CCDC40 Gene Primary Ciliary Dyskinesia Type 15 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Specialty | ENT Doctor |
| Department | Genetics |
| Testing Method | NGS Technology |
| Disease Category | Ear Nose Throat Disorders |
Pre-Test Instructions
Before scheduling your CCDC40 Gene Test, we recommend:
- Providing complete clinical history of respiratory symptoms and related conditions
- Participating in a genetic counseling session to discuss test implications
- Creating a detailed family pedigree chart documenting affected relatives
- Consulting with your ENT specialist or pulmonologist for referral
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure accurate and reliable results with comprehensive support services.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our CCDC40 Gene Primary Ciliary Dyskinesia Type 15 NGS Genetic DNA Test provides the answers you need for informed medical management and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test appointment or to speak with our genetic counseling team. Take control of your genetic health with comprehensive testing from America’s trusted genetics laboratory.
