FKTN Gene Fukuyama Congenital Muscular Dystrophy NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neuromuscular Disorders
The FKTN Gene Fukuyama Congenital Muscular Dystrophy NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare inherited neuromuscular conditions. This advanced genetic analysis utilizes next-generation sequencing technology to identify mutations in the FKTN gene, which plays a critical role in muscle cell structure and brain development. Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by progressive muscle weakness, brain malformations, and eye abnormalities, primarily affecting infants and young children.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the FKTN gene located on chromosome 9q31, analyzing the entire coding region and flanking intronic sequences to identify:
- Pathogenic variants including the common 3-kb retrotransposal insertion
- Point mutations, deletions, and insertions affecting gene function
- Compound heterozygous mutations contributing to disease severity
- Novel genetic variants with potential clinical significance
The test provides complete coverage of all exons and critical regulatory regions, ensuring maximum detection sensitivity for this complex genetic disorder.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Infants with congenital muscle weakness and hypotonia
- Children showing delayed motor milestones and walking difficulties
- Patients with elevated serum creatine kinase levels
- Individuals with brain abnormalities on MRI, particularly cobblestone lissencephaly
- Eye manifestations including retinal dysplasia and myopia
- Family history of congenital muscular dystrophy or consanguineous parents
- Couples with previous affected children planning future pregnancies
Clinical Benefits and Diagnostic Value
Undergoing FKTN genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms FCMD and differentiates from other muscular dystrophy types
- Prognostic Information: Helps predict disease progression and severity
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Early Intervention: Facilitates timely physical therapy and supportive care
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your FKTN gene analysis:
- Positive Result: Identifies pathogenic mutations confirming FCMD diagnosis
- Negative Result: No detected mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
All results include detailed explanations and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family.
Test Pricing and Availability
| Test Component | Price |
|---|---|
| FKTN Gene Fukuyama Congenital Muscular Dystrophy NGS Genetic DNA Test | $700 USD |
| Current Discount Price | $500 USD |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
To ensure optimal testing accuracy, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Detailed pedigree chart of affected family members
- Neurological evaluation and relevant clinical findings
Nationwide Testing Availability
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 other cities. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our FKTN Gene Fukuyama Congenital Muscular Dystrophy NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our current special pricing at only $500, now is the perfect time to gain valuable genetic insights.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Early genetic diagnosis can make a significant difference in managing congenital muscular dystrophy and planning appropriate interventions. Trust our expertise in neurological genetics to provide the comprehensive testing and support your family deserves.
