GLA Gene Fabry Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Fabry Disease
The GLA Gene Fabry Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for identifying Fabry disease, a rare inherited metabolic disorder that affects multiple organ systems. This sophisticated genetic analysis utilizes cutting-edge next-generation sequencing technology to provide accurate and comprehensive detection of mutations in the GLA gene, which encodes the enzyme alpha-galactosidase A.
What is Fabry Disease?
Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of the alpha-galactosidase A enzyme. This deficiency leads to progressive accumulation of globotriaosylceramide (GL-3) and related glycosphingolipids in various tissues and organs, resulting in multisystem complications including renal failure, cardiac disease, and cerebrovascular events.
What the Test Measures and Detects
Our advanced NGS genetic test specifically analyzes the GLA gene located on the X chromosome to identify:
- Point mutations and small deletions/insertions
- Missense, nonsense, and splice-site variants
- Large deletions and duplications
- Known pathogenic variants associated with Fabry disease
- Novel variants of uncertain significance
Technical Specifications
- Methodology: Next-Generation Sequencing (NGS) Technology
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of Fabry disease or those with relevant family history:
Symptoms and Clinical Indications
- Neuropathic pain in hands and feet (acroparesthesias)
- Heat and cold intolerance with reduced sweating
- Characteristic skin lesions (angiokeratomas)
- Gastrointestinal symptoms including abdominal pain and diarrhea
- Corneal and lenticular opacities
- Progressive kidney dysfunction
- Cardiac manifestations including arrhythmias and hypertrophy
- Cerebrovascular events at young age
- Family history of Fabry disease or unexplained kidney/heart disease
Pre-Test Requirements
Before testing, we provide comprehensive genetic counseling and require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed pedigree chart
- Documentation of affected family members
Benefits of Taking the GLA Gene Fabry Disease Test
Early detection through genetic testing offers numerous advantages for patients and their families:
Medical Benefits
- Early Intervention: Enables timely initiation of enzyme replacement therapy
- Disease Monitoring: Facilitates regular monitoring of organ function
- Preventive Care: Helps prevent serious complications like kidney failure
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches
Psychological and Social Benefits
- Reduces diagnostic uncertainty and anxiety
- Enables informed healthcare decisions
- Facilitates family screening and early detection in relatives
- Provides access to specialized care and support networks
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully understand your test results and their implications:
Possible Result Interpretations
- Positive Result: Identification of a known pathogenic variant confirms diagnosis of Fabry disease
- Negative Result: No pathogenic variants detected, significantly reducing likelihood of Fabry disease
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family planning and genetic counseling
Post-Test Guidance
- Detailed explanation of results by certified genetic counselors
- Referral to appropriate specialists for management
- Family screening recommendations
- Long-term monitoring and follow-up care planning
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Availability
We have branches across all major cities in the United States, making genetic testing accessible to patients nationwide. Our facilities are equipped with state-of-the-art technology and staffed by experienced genetic specialists.
Major Service Locations Include:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Take Control of Your Genetic Health Today
Don’t let uncertainty about Fabry disease affect your health and quality of life. Our comprehensive genetic testing provides the answers you need to make informed decisions about your healthcare journey.
Ready to Schedule Your Test?
Contact our genetic specialists today to schedule your GLA Gene Fabry Disease NGS Genetic DNA Test. Our team is available to answer your questions and guide you through the testing process.
Call or WhatsApp: +1(267) 388-9828
Take the first step toward understanding your genetic health and preventing serious complications associated with Fabry disease. Book your test today and benefit from our expert genetic counseling and comprehensive testing services.
