CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Muscle Disorders
The CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with centronuclear myopathy type 4. This rare inherited muscle disorder affects skeletal muscle function and can present significant challenges in diagnosis and management without proper genetic testing.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically analyzes the CCDC78 gene for pathogenic variants that cause centronuclear myopathy type 4. The test examines:
- Complete sequencing of the CCDC78 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of novel genetic variants affecting muscle protein function
- Assessment of autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Progressive muscle weakness beginning in childhood or early adulthood
- Delayed motor milestones in infants and children
- Family history of centronuclear myopathy or similar muscle disorders
- Unexplained muscle fatigue and decreased muscle tone
- Respiratory complications related to muscle weakness
- Abnormal muscle biopsy findings suggestive of centronuclear myopathy
Significant Benefits of Early Genetic Testing
Undergoing the CCDC78 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out centronuclear myopathy type 4 with high precision
- Family Planning Guidance: Provides essential information for genetic counseling and reproductive decisions
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive therapies
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic CCDC78 gene mutations, confirming centronuclear myopathy type 4 diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the CCDC78 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Accessibility
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their significance
Take Control of Your Genetic Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our special discounted price of $500 USD (regularly $700 USD), advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling specialists. Take the first step toward understanding your genetic health with confidence and precision.
