FKTN Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2M NGS Genetic DNA Test
Comprehensive Genetic Testing for Muscular Dystrophy Diagnosis
The FKTN Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2M NGS Genetic DNA Test represents a breakthrough in neuromuscular disorder diagnostics. This advanced genetic test specifically targets mutations in the FKTN (fukutin) gene, which plays a crucial role in muscle cell function and integrity. When mutations occur in this gene, they disrupt normal muscle protein production, leading to progressive muscle weakness and degeneration characteristic of limb-girdle muscular dystrophy type 2M.
What This Test Measures and Detects
Our state-of-the-art Next-Generation Sequencing (NGS) technology provides comprehensive analysis of the entire FKTN gene to identify:
- Pathogenic variants and mutations in the FKTN gene
- Autosomal recessive inheritance patterns
- Specific genetic markers associated with limb-girdle muscular dystrophy type 2M
- Novel mutations that may not be detected through conventional testing methods
- Carrier status for family members
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in hip and shoulder regions
- Difficulty climbing stairs or rising from seated positions
- Frequent falls or balance problems
- Family history of muscular dystrophy or unexplained muscle weakness
- Elevated creatine kinase levels without clear explanation
- Children or adults with delayed motor milestones
- Individuals with suspected neuromuscular disorders
Key Benefits of FKTN Genetic Testing
Choosing our comprehensive FKTN gene testing provides numerous advantages:
- Accurate Diagnosis: Precise identification of FKTN gene mutations enables definitive diagnosis
- Early Intervention: Early detection allows for timely medical management and treatment planning
- Family Planning Guidance: Results inform reproductive decisions and genetic counseling
- Personalized Care: Genetic information helps tailor physical therapy and treatment approaches
- Carrier Detection: Identifies asymptomatic carriers within families
- Research Contribution: Advances understanding of muscular dystrophy genetics
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your FKTN gene test results:
- Positive Result: Indicates presence of pathogenic FKTN mutations confirming limb-girdle muscular dystrophy type 2M diagnosis
- Negative Result: Suggests FKTN gene mutations are not the cause of symptoms, though other genetic factors may be involved
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with one mutated FKTN gene copy who may pass the condition to offspring
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Description | Regular Price | Discount Price |
|---|---|---|
| FKTN Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2M NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
GGC DNA provides comprehensive FKTN genetic testing services across the United States. We have established testing centers in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other locations. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about muscular dystrophy symptoms affect your quality of life. Our FKTN gene testing provides the clarity needed for proper diagnosis and management. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your FKTN gene test. Our expert genetic counselors are ready to guide you through the testing process and help you understand your results.
Remember to bring your clinical history and be prepared for a comprehensive genetic counseling session that includes creating a detailed family pedigree chart. This information is crucial for accurate interpretation of your genetic test results and understanding inheritance patterns within your family.
