GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Early Detection
The GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for one of the most severe forms of lysosomal storage disorders. This advanced genetic analysis utilizes cutting-edge Next-Generation Sequencing (NGS) technology to provide comprehensive screening for mutations in the GBA gene, which encodes the enzyme glucocerebrosidase. Early detection through this test can significantly impact clinical outcomes and family planning decisions.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets and analyzes the GBA gene to identify pathogenic variants associated with Gaucher Disease Type 2. The test detects:
- Point mutations, deletions, and insertions in the GBA gene
- Compound heterozygous and homozygous mutations
- Known pathogenic variants linked to neurological manifestations
- Novel mutations through comprehensive gene sequencing
- Carrier status for family members
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Infants and children with progressive neurological deterioration
- Patients exhibiting hepatosplenomegaly (enlarged liver and spleen)
- Individuals with developmental regression or failure to thrive
- Family history of Gaucher disease or consanguineous parents
- Unexplained seizures, strabismus, or oculomotor apraxia
- Progressive brainstem dysfunction and respiratory complications
Clinical Benefits of Genetic Testing
Undergoing the GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test provides numerous clinical advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Care: Guides targeted treatment approaches
- Genetic Counseling: Supports informed family discussions
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic GBA mutations, confirming Gaucher Disease Type 2 diagnosis
- Negative Result: Suggests no detectable mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test | $500 USD | $700 USD |
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 cities. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management. Our genetic counseling team is available to discuss your concerns and guide you through the testing process. Early detection can make a significant difference in managing this complex metabolic disorder.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward comprehensive genetic understanding.
Turnaround Time: 3-4 Weeks | Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
