FKTN Gene Walker-Warburg Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The FKTN Gene Walker-Warburg Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the FKTN gene, which are directly associated with Walker-Warburg syndrome. This severe congenital muscular dystrophy disorder affects multiple body systems, primarily involving the brain, eyes, and muscles. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variants that contribute to this complex neurological condition.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the FKTN gene, which encodes the protein fukutin. Mutations in this gene disrupt normal glycosylation processes essential for muscle and brain development. The test detects:
- Point mutations and small insertions/deletions in the FKTN gene
- Copy number variations affecting gene function
- Pathogenic variants associated with Walker-Warburg syndrome
- Carrier status for autosomal recessive inheritance patterns
- Novel genetic changes that may contribute to disease manifestation
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or circumstances:
- Infants with congenital muscular weakness and hypotonia
- Children displaying developmental delays and neurological abnormalities
- Individuals with family history of Walker-Warburg syndrome
- Patients with unexplained brain malformations detected on imaging
- Those with ocular abnormalities including retinal dysplasia or cataracts
- Couples with previous affected children planning future pregnancies
- Individuals with elevated creatine kinase levels and muscle pathology
Significant Benefits of FKTN Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Early and Accurate Diagnosis: Enables precise identification of the underlying genetic cause
- Informed Family Planning: Provides crucial information for reproductive decisions
- Personalized Management: Guides appropriate medical interventions and therapies
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling Support: Facilitates understanding of inheritance patterns
- Research Contribution: Advances scientific knowledge of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic FKTN gene mutations associated with Walker-Warburg syndrome
- Negative Result: Suggests no detectable mutations in the FKTN gene, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical implications requiring further evaluation
- Carrier Status: Reveals individuals who carry one copy of a mutated gene without showing symptoms
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| FKTN Gene Walker-Warburg Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| FKTN Gene Walker-Warburg Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient 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 state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Action for Your Neurological Health
Don’t wait to get the answers you need for proper diagnosis and management of neurological conditions. Our expert genetic counselors and neurologists are ready to assist you through every step of the testing process. Schedule your appointment today to begin your journey toward clarity and informed healthcare decisions.
Call or WhatsApp us now at +1(267) 388-9828 to book your FKTN Gene Walker-Warburg Syndrome NGS Genetic DNA Test and take control of your genetic health.
