CFAP298 Gene Primary Ciliary Dyskinesia Type 26 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Primary Ciliary Dyskinesia
The CFAP298 Gene Primary Ciliary Dyskinesia Type 26 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals suffering from chronic respiratory conditions and unexplained fertility issues. This advanced genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to comprehensively analyze the CFAP298 gene, which plays a critical role in ciliary structure and function throughout the body.
What is Primary Ciliary Dyskinesia?
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by impaired ciliary function. Cilia are microscopic, hair-like structures that line the respiratory tract, reproductive system, and other organs. In healthy individuals, these cilia beat in coordinated waves to move mucus, debris, and pathogens out of the airways. When ciliary function is compromised due to genetic mutations like those in the CFAP298 gene, patients experience recurrent respiratory infections, chronic sinusitis, and other serious health complications.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic test specifically targets the CFAP298 gene to identify pathogenic variants responsible for Primary Ciliary Dyskinesia Type 26. The test detects:
- Point mutations, insertions, and deletions in the CFAP298 gene
- Novel genetic variants of uncertain significance
- Inheritance patterns (autosomal recessive)
- Carrier status for family members
- Specific mutations affecting ciliary ultrastructure and function
The CFAP298 gene encodes a crucial protein component of the ciliary axoneme, the internal structural framework of cilia. Mutations in this gene disrupt the normal 9+2 microtubule arrangement essential for proper ciliary beating and mucociliary clearance.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Chronic respiratory symptoms beginning in infancy or early childhood
- Recurrent sinus infections and persistent nasal congestion
- Frequent middle ear infections (otitis media) requiring ventilation tubes
- Chronic wet cough that persists despite treatment
- Bronchiectasis confirmed by imaging studies
- Situs inversus (organs positioned on opposite sides) in approximately 50% of cases
- Unexplained male infertility due to impaired sperm motility
- Female subfertility related to fallopian tube ciliary dysfunction
- Family history of Primary Ciliary Dyskinesia or similar respiratory conditions
Benefits of CFAP298 Genetic Testing
Early Diagnosis and Personalized Management
Obtaining a definitive genetic diagnosis through CFAP298 testing provides numerous clinical benefits:
- Accurate Diagnosis: Differentiates PCD from other respiratory conditions like cystic fibrosis or asthma
- Early Intervention: Enables proactive management before irreversible lung damage occurs
- Personalized Treatment: Guides targeted therapies including airway clearance techniques and antibiotic regimens
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of PCD and contributes to medical knowledge
Understanding Your Test Results
Interpretation and Clinical Implications
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identification of two pathogenic CFAP298 mutations confirms Primary Ciliary Dyskinesia Type 26 diagnosis
- Carrier Status: Detection of one mutation indicates carrier status with no symptoms but important for family planning
- Negative Result: No CFAP298 mutations detected, though other genetic causes of PCD may require investigation
- Variant of Uncertain Significance: Novel genetic changes requiring further clinical correlation and family studies
All positive results include detailed genetic counseling to help patients and families understand the implications, inheritance patterns, and management strategies. Our team works closely with ENT specialists and pulmonologists to ensure comprehensive care coordination.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CFAP298 Gene Primary Ciliary Dyskinesia Type 26 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | ENT Doctor, Genetics Department |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree analysis to identify inheritance patterns
- Review of previous diagnostic studies and imaging
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 genetic counselors and specialized ENT physicians ensures you receive comprehensive care regardless of your location.
Take Control of Your Respiratory Health Today
Don’t let unexplained respiratory symptoms or fertility concerns go undiagnosed. The CFAP298 Gene Primary Ciliary Dyskinesia Type 26 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 strategy.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward definitive diagnosis and personalized care for Primary Ciliary Dyskinesia.
