FUCA1 Gene Fucosidosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The FUCA1 Gene Fucosidosis NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced testing methodology provides crucial insights into inherited metabolic disorders that affect the central nervous system, enabling early intervention and personalized treatment approaches.
What is Fucosidosis?
Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the FUCA1 gene. This condition results from deficient alpha-L-fucosidase enzyme activity, leading to the accumulation of complex carbohydrates in various tissues, particularly affecting the brain and nervous system. The disorder manifests in progressive neurological deterioration, developmental delays, and multiple organ system involvement.
What Does the Test Detect?
Our comprehensive NGS-based genetic test specifically targets:
- Mutations in the FUCA1 gene located on chromosome 1p36.11
- Point mutations, deletions, and insertions affecting enzyme function
- Genetic variants associated with both Type I (severe) and Type II (milder) fucosidosis
- Carrier status for autosomal recessive inheritance patterns
- Novel genetic alterations through comprehensive gene sequencing
Advanced NGS Technology
Utilizing Next-Generation Sequencing (NGS) technology, our test provides unparalleled accuracy in detecting genetic variations. This method sequences the entire FUCA1 gene with high coverage, ensuring comprehensive analysis of all coding regions, splice sites, and regulatory elements.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Progressive neurological deterioration
- Coarse facial features and skeletal abnormalities
- Recurrent respiratory infections and angiokeratomas
- Family history of fucosidosis or consanguineous parents
- Unexplained intellectual disability with neurological symptoms
- Suspected lysosomal storage disorders
Family Planning Considerations
Couples with family history of fucosidosis should consider carrier testing before pregnancy to assess genetic risks and explore reproductive options.
Benefits of FUCA1 Genetic Testing
- Early Diagnosis: Enables prompt intervention and management strategies
- Accurate Prognosis: Provides clarity on disease progression and expected outcomes
- Family Planning: Informs reproductive decisions and genetic counseling
- Personalized Care: Guides targeted treatment approaches and symptom management
- Research Contribution: Advances understanding of rare genetic disorders
- Peace of Mind: Reduces diagnostic uncertainty for affected families
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes:
- Positive Result: Identification of pathogenic mutations confirms fucosidosis diagnosis
- Carrier Status: Single mutation detection indicates carrier state without disease manifestation
- Negative Result: No detected mutations significantly reduce fucosidosis likelihood
- Variants of Uncertain Significance: Rare genetic changes requiring further clinical correlation
Genetic Counseling Support
All positive results include complimentary genetic counseling sessions to help patients and families understand implications, inheritance patterns, and management options.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | FUCA1 Gene Fucosidosis 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:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
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 more cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our FUCA1 Gene Fucosidosis NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you’re investing in precise diagnostic information that can guide treatment and family planning.
Ready to schedule your test? Contact our genetic specialists today:
Call or WhatsApp: +1(267) 388-9828
Our team of genetic counselors and neurological specialists are available to answer your questions, discuss testing options, and help you understand the process. Take the first step toward genetic clarity and proactive health management.
