FKRP Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2I NGS Genetic DNA Test
Comprehensive Genetic Testing for Neuromuscular Disorders
The FKRP Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2I NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neuromuscular conditions. This advanced test specifically targets mutations in the FKRP (fukutin-related protein) gene, which plays a critical role in muscle function and development. Limb-girdle muscular dystrophy type 2I is an inherited condition characterized by progressive weakness and wasting of muscles in the shoulders, upper arms, hips, and thighs.
What This Test Measures and Detects
This comprehensive genetic analysis utilizes next-generation sequencing (NGS) technology to examine the entire FKRP gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the FKRP gene
- Autosomal recessive inheritance patterns
- Specific genetic markers associated with limb-girdle muscular dystrophy type 2I
- Carrier status for family members
- Disease-causing variants that affect alpha-dystroglycan glycosylation
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in the hips, shoulders, and limbs
- Difficulty climbing stairs, rising from chairs, or lifting objects
- Family history of muscular dystrophy or neuromuscular disorders
- Unexplained elevated creatine kinase levels
- Children or adults with delayed motor milestones
- Individuals with suspected inherited muscle conditions
Clinical Benefits of Genetic Testing
Undergoing FKRP gene testing provides numerous advantages for patients and healthcare providers:
- Accurate diagnosis and differentiation from other muscular dystrophy types
- Personalized treatment planning and management strategies
- Genetic counseling for family planning decisions
- Early intervention opportunities for better outcomes
- Clarification of inheritance patterns for family members
- Access to specialized care and clinical trials
- Psychological relief from diagnostic uncertainty
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists. Possible outcomes include:
- Positive Result: Identification of pathogenic FKRP mutations confirms diagnosis of limb-girdle muscular dystrophy type 2I
- Negative Result: No disease-causing variants detected in the FKRP gene
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of a mutated gene
All results include comprehensive genetic counseling to help you understand the implications and next steps.
Test Pricing and Information
| Test Feature | Details |
|---|---|
| Test Name | FKRP Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2I 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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, high-quality care for patients nationwide.
Take Control of Your Health Today
Don’t let uncertainty about neuromuscular symptoms affect your quality of life. Our advanced FKRP gene testing provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD, comprehensive genetic analysis is more accessible than ever.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Our specialists are available to answer your questions and guide you through the testing process.
