DAG1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C9 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Limb-Girdle Muscular Dystrophy
The DAG1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C9 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neuromuscular disorders. This advanced test specifically targets the DAG1 gene, which encodes the dystroglycan protein complex essential for maintaining muscle membrane integrity and function. When mutations occur in this critical gene, they disrupt the dystrophin-glycoprotein complex, leading to progressive muscle degeneration and weakness characteristic of limb-girdle muscular dystrophy type C9.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test performs detailed analysis of the entire DAG1 gene sequence to identify:
- Point mutations and single nucleotide variants affecting dystroglycan function
- Insertions and deletions that disrupt protein structure
- Splice site mutations impacting gene expression
- Copy number variations affecting gene dosage
- Pathogenic variants associated with dystroglycanopathy spectrum disorders
The test utilizes state-of-the-art next-generation sequencing technology, providing unparalleled accuracy in detecting even rare genetic variants that conventional methods might miss. This comprehensive approach ensures thorough evaluation of all potential mutation types within the DAG1 gene.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in hips, shoulders, and limbs
- Difficulty rising from chairs or climbing stairs
- Frequent falls or walking abnormalities
- Muscle wasting without clear explanation
- Family history of muscular dystrophy or neuromuscular disorders
- Elevated creatine kinase levels without diagnosis
- Delayed motor milestones in childhood
- Suspected limb-girdle muscular dystrophy based on clinical presentation
Significant Benefits of Genetic Testing
Undergoing the DAG1 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out limb-girdle muscular dystrophy type C9 with high precision
- Treatment Guidance: Informs targeted treatment approaches and management strategies
- Family Planning: Provides crucial information for reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Clinical Trial Eligibility: Opens access to specialized treatments and research studies
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity
- Early Intervention: Enables proactive management before significant muscle damage occurs
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic DAG1 gene mutations associated with limb-girdle muscular dystrophy type C9. Our genetic counselors will explain the specific mutation, inheritance pattern, and implications for family members.
- Negative Result: Suggests that no disease-causing mutations were detected in the DAG1 gene. However, other genetic or non-genetic causes of symptoms may need investigation.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical significance. Our team provides ongoing monitoring and reclassification as new research emerges.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but typically don’t show symptoms, important for family planning decisions.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Specialty: Neurology
Department: Genetics
Method: NGS Technology
Disease Type: Neurological Disorders
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations 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 neurological specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about muscular symptoms control your life. Our DAG1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C9 NGS Genetic DNA Test provides the answers you need to make informed health decisions. With our current discount pricing at $500 USD (regularly $700 USD), now is the perfect time to gain clarity about your genetic health.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your results with professional support and care.
