FUCA1 Gene Fucosidosis NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Metabolic Disorders
The FUCA1 Gene Fucosidosis NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited metabolic conditions. This advanced screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the FUCA1 gene, which is responsible for encoding the alpha-L-fucosidase enzyme. When this enzyme is deficient, it leads to fucosidosis – a progressive lysosomal storage disorder that affects multiple body systems and can significantly impact quality of life.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the FUCA1 gene located on chromosome 1p34. The test identifies:
- Pathogenic variants and mutations in the FUCA1 gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and copy number variations
- Carrier status for autosomal recessive inheritance patterns
- Specific genetic markers associated with disease severity and progression
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Progressive neurological deterioration and cognitive decline
- Characteristic coarse facial features and skeletal abnormalities
- Recurrent respiratory infections and compromised immune function
- Angiokeratoma skin lesions and vision problems
- Family history of fucosidosis or unexplained metabolic disorders
- Couples planning pregnancy with known family history of metabolic conditions
Significant Benefits of Early Detection
Undergoing the FUCA1 Gene Fucosidosis NGS Genetic DNA Test provides numerous advantages:
- Early Intervention Opportunities: Enables proactive management before severe symptoms develop
- Accurate Diagnosis: Provides definitive genetic confirmation beyond clinical symptoms
- Family Planning Guidance: Informs reproductive decisions and genetic counseling
- Personalized Treatment Strategies: Guides targeted therapeutic approaches
- Carrier Identification: Identifies asymptomatic family members at risk
- Prognostic Information: Helps predict disease course and potential complications
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical geneticists:
- Positive Result: Indicates presence of pathogenic mutations confirming fucosidosis diagnosis
- Carrier Status: Identifies individuals with one mutated copy who can pass the condition to offspring
- Negative Result: Suggests absence of known FUCA1 mutations but doesn’t rule out other metabolic disorders
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Accessibility
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 more. Our network of certified genetic testing facilities ensures accessible, reliable service regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proper diagnosis and management of metabolic disorders. Our experienced genetic counselors are available to discuss your concerns and guide you through the testing process. Early detection through advanced genetic testing can make a significant difference in disease management and quality of life outcomes.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your FUCA1 Gene Fucosidosis NGS Genetic DNA Test appointment. Our dedicated team is ready to assist you with compassionate, professional genetic testing services.
