FKRP Gene Muscular Dystrophy Type 1C NGS Genetic DNA Test
Comprehensive Genetic Testing for Limb-Girdle Muscular Dystrophy
The FKRP Gene Muscular Dystrophy Type 1C NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the FKRP (fukutin-related protein) gene, which is responsible for limb-girdle muscular dystrophy type 1C (LGMD1C). This progressive neuromuscular disorder affects the muscles around the hips and shoulders, leading to significant mobility challenges and quality of life impacts. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variants that traditional testing methods might miss.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the FKRP gene located on chromosome 19q13.3, which encodes the fukutin-related protein essential for proper muscle function. The test detects:
- Point mutations, deletions, and insertions in the FKRP gene
- Pathogenic variants associated with LGMD1C
- Both inherited and de novo mutations
- Carrier status for family members
- Specific mutation types that may influence disease severity
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in the hips, shoulders, and limbs
- Elevated creatine kinase (CK) levels without clear explanation
- Difficulty climbing stairs, rising from chairs, or lifting objects
- Family history of muscular dystrophy or unexplained muscle weakness
- Muscle cramps or stiffness that interferes with daily activities
- Delayed motor milestones in children
- Cardiac abnormalities associated with muscular dystrophy
Clinical Benefits of Genetic Testing
Undergoing FKRP gene testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out LGMD1C with high precision
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Informs reproductive decisions and genetic counseling
- Early Intervention: Enables proactive management of symptoms
- Clinical Trial Eligibility: Opens access to emerging treatments
- Psychological Relief: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of pathogenic FKRP mutations confirming LGMD1C diagnosis
- Negative Result: Suggests FKRP mutations are not the cause of symptoms, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies or follow-up testing
- Carrier Status: Identifies individuals who carry one copy of the mutation but may not show symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | FKRP Gene Muscular Dystrophy Type 1C NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of a detailed family pedigree chart
- Discussion of potential implications and limitations of testing
- Informed consent process
Nationwide Accessibility
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, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about muscular symptoms control your life. Our FKRP Gene Muscular Dystrophy Type 1C NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can gain valuable insights into your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your neuromuscular health journey.
