ARMC4 Gene Primary Ciliary Dyskinesia Type 23 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Ciliary Disorders
The ARMC4 Gene Primary Ciliary Dyskinesia Type 23 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for Primary Ciliary Dyskinesia (PCD) Type 23. This specialized genetic test provides crucial insights into the underlying genetic causes of chronic respiratory conditions and ciliary dysfunction that significantly impact patient quality of life.
What is Primary Ciliary Dyskinesia Type 23?
Primary Ciliary Dyskinesia Type 23 is a rare genetic disorder caused by mutations in the ARMC4 gene, which plays a critical role in the structure and function of motile cilia. These microscopic, hair-like structures line the respiratory tract, reproductive organs, and other body systems, facilitating essential functions such as mucus clearance, fluid movement, and embryonic development.
What the Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically targets the ARMC4 gene to identify:
- Pathogenic mutations in the ARMC4 gene sequence
- Single nucleotide variants (SNVs) affecting ciliary function
- Insertions and deletions that disrupt normal gene expression
- Copy number variations impacting ARMC4 gene dosage
- Splice site mutations that alter protein production
Advanced NGS Technology
Utilizing Next-Generation Sequencing technology, this test provides comprehensive coverage of the entire ARMC4 gene with exceptional accuracy and sensitivity. The NGS approach enables simultaneous analysis of multiple genetic regions, ensuring thorough detection of both common and rare mutations associated with Primary Ciliary Dyskinesia Type 23.
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Chronic Respiratory Symptoms: Persistent cough, wheezing, and recurrent pneumonia from infancy
- Recurrent Sinus Infections: Frequent sinusitis requiring multiple antibiotic courses
- Ear Complications: Chronic otitis media with hearing impairment
- Neonatal Respiratory Distress: Unexplained breathing difficulties at birth
- Situs Inversus: Organ reversal affecting approximately 50% of PCD patients
- Fertility Concerns: Male infertility due to impaired sperm motility
- Family History: Known cases of Primary Ciliary Dyskinesia in relatives
Clinical Indications for Testing
ENT specialists and genetic counselors typically recommend this test when patients exhibit the classic triad of chronic sinusitis, bronchiectasis, and situs inversus. Early diagnosis is crucial for implementing appropriate management strategies and preventing long-term complications.
Benefits of Taking the ARMC4 Genetic Test
- Definitive Diagnosis: Provides conclusive genetic evidence for Primary Ciliary Dyskinesia Type 23
- Personalized Treatment: Enables targeted therapies and management strategies
- Family Planning: Offers valuable information for reproductive decisions and genetic counseling
- Early Intervention: Facilitates prompt initiation of airway clearance techniques
- Comprehensive Care: Supports multidisciplinary approach involving pulmonologists, ENT specialists, and fertility experts
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the ARMC4 gene, confirming the diagnosis of Primary Ciliary Dyskinesia Type 23. This finding enables:
- Implementation of specialized respiratory care protocols
- Regular monitoring for pulmonary complications
- Genetic counseling for family members
- Tailored fertility management if applicable
Negative Result Interpretation
A negative result suggests that ARMC4 gene mutations are not responsible for the patient’s symptoms. However, this may indicate the need for:
- Testing for other PCD-related genes
- Evaluation for alternative respiratory conditions
- Continued clinical monitoring and assessment
Variant of Uncertain Significance
In some cases, the test may identify genetic changes with unclear clinical implications. Our genetic counseling team provides comprehensive interpretation and recommends appropriate follow-up testing or family studies when necessary.
Test Pricing and Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: ENT Doctor
- Department: Genetics
- Method: NGS Technology
- Disease Type: Ear Nose Throat Disorders
Pre-Test Requirements
Before scheduling your ARMC4 Gene Test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Testing Availability
We proudly offer the ARMC4 Gene Primary Ciliary Dyskinesia Type 23 NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in all major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and the Midwest
- Houston and Texas metropolitan areas
- Phoenix and Arizona communities
- All other major urban centers nationwide
Take Action for Your Health Today
Don’t let unexplained respiratory symptoms or family history of ciliary disorders remain undiagnosed. The ARMC4 Gene Test provides the clarity needed for effective management and improved quality of life. Our experienced genetic counselors and medical professionals are ready to support you through every step of the testing process.
Schedule Your Test Now
Contact our dedicated patient care team to book your ARMC4 Gene Primary Ciliary Dyskinesia Type 23 NGS Genetic DNA Test. Call or WhatsApp us at +1(267) 388-9828 to discuss your testing needs, schedule an appointment, or obtain additional information about our comprehensive genetic testing services.
Early diagnosis through genetic testing can significantly impact treatment outcomes and quality of life. Take the first step toward understanding your genetic health today.
