ANO5 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2L NGS Genetic DNA Test
Comprehensive Genetic Testing for Limb-Girdle Muscular Dystrophy
The ANO5 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2L NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the ANO5 gene, which encodes the anoctamin-5 protein crucial for muscle membrane repair and function. When this gene malfunctions, it leads to progressive muscle degeneration affecting the hips, shoulders, and limbs.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the ANO5 gene to identify:
- Pathogenic variants and mutations in the ANO5 gene
- Autosomal recessive inheritance patterns
- Specific genetic markers associated with Type 2L muscular dystrophy
- Novel variants that may contribute to disease progression
- Carrier status for family members
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing unparalleled accuracy in detecting even the most subtle genetic alterations that conventional methods might miss.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive muscle weakness in the hips, thighs, and shoulders
- Difficulty climbing stairs, rising from chairs, or lifting objects
- Elevated creatine kinase (CK) levels without clear explanation
- Family history of muscular dystrophy or unexplained muscle disorders
- Muscle cramps or pain following exercise
- Delayed motor milestones in childhood
- Asymptomatic individuals with affected family members seeking carrier status
Key Benefits of ANO5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out ANO5-related muscular dystrophy with high precision
- Personalized Treatment Planning: Enables targeted therapeutic approaches based on genetic findings
- Family Planning Guidance: Provides crucial information for reproductive decisions and genetic counseling
- Early Intervention: Facilitates proactive management strategies before significant muscle deterioration occurs
- Clinical Trial Eligibility: May qualify patients for specialized treatments and research studies
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for future planning
Understanding Your Test Results
Our comprehensive report includes detailed interpretation of your genetic findings:
- Positive Result: Indicates the presence of pathogenic ANO5 mutations. Our genetic counselors will explain the implications for disease progression and management.
- Negative Result: Suggests that ANO5 mutations are not the cause of symptoms, though other genetic or non-genetic factors may be considered.
- Variant of Uncertain Significance: Some genetic changes require additional family studies or research to determine clinical significance.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but typically don’t show symptoms.
All results are accompanied by detailed explanations and recommendations for next steps from our certified genetic counselors.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ANO5 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2L 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Informed consent understanding the potential outcomes
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 collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Clarity
Don’t let uncertainty about muscle weakness or family history of muscular disorders control your future. Our ANO5 genetic test provides the answers you need to make informed healthcare decisions. With our discounted price of only $500 USD, advanced genetic testing is more accessible than ever.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take control of your neurological health with definitive genetic insights from General Genetics Corporation – your trusted partner in advanced genetic diagnostics.
