GM2A Gene Tay-Sachs Disease AB Variant NGS Genetic DNA Test
Comprehensive Genetic Testing for Tay-Sachs Disease AB Variant
The GM2A Gene Tay-Sachs Disease AB Variant NGS Genetic DNA Test represents a significant advancement in genetic diagnostics for rare metabolic disorders. This specialized test focuses on identifying mutations in the GM2A gene, which plays a critical role in lipid metabolism within nerve cells. Tay-Sachs disease AB variant is an extremely rare form of the classic Tay-Sachs disease, characterized by similar devastating neurological symptoms but caused by different genetic mechanisms.
What Does This Test Measure and Detect?
Our advanced NGS (Next-Generation Sequencing) technology comprehensively analyzes the GM2A gene to identify:
- Point mutations and small insertions/deletions in the GM2A gene
- Genetic variations affecting GM2 activator protein function
- Specific mutations associated with Tay-Sachs disease AB variant
- Carrier status for this rare metabolic disorder
- Risk assessment for offspring inheritance patterns
The GM2A gene encodes the GM2 activator protein, which is essential for breaking down GM2 gangliosides in lysosomes. When this protein malfunctions due to genetic mutations, toxic substances accumulate in nerve cells, leading to progressive neurological deterioration.
Who Should Consider This Genetic Test?
This test is particularly recommended for:
- Individuals with family history of Tay-Sachs disease or related metabolic disorders
- Couples planning pregnancy, especially from high-risk ethnic backgrounds
- Parents who have had a child with unexplained neurological symptoms
- Individuals experiencing developmental delays or neurological symptoms
- Those with known carrier status in their family lineage
- Healthcare providers seeking definitive diagnosis for patients with suspected metabolic disorders
Key Symptoms and Clinical Indications
Tay-Sachs disease AB variant typically presents with:
- Progressive neurological deterioration in infancy or early childhood
- Loss of motor skills and developmental regression
- Muscle weakness and decreased muscle tone
- Visual impairment and cherry-red spot in the retina
- Seizures and exaggerated startle response
- Difficulty swallowing and feeding problems
Benefits of GM2A Genetic Testing
Early Detection and Intervention
Genetic testing provides the opportunity for early identification of Tay-Sachs disease AB variant, allowing for:
- Timely medical management and supportive care
- Family planning decisions based on accurate genetic information
- Access to specialized medical resources and support services
- Participation in clinical trials and research studies
Comprehensive Family Planning
The test results empower families with crucial information for:
- Understanding inheritance patterns and recurrence risks
- Making informed reproductive decisions
- Exploring options like preimplantation genetic diagnosis
- Preparing for potential healthcare needs
Understanding Your Test Results
Interpretation Guidelines
Our genetic counseling team provides comprehensive result interpretation:
- Positive Result: Indicates presence of GM2A gene mutations associated with Tay-Sachs disease AB variant. Our genetic counselors will explain the specific mutation, inheritance pattern, and implications for family members.
- Negative Result: No disease-causing mutations detected in the GM2A gene. However, this doesn’t completely rule out other genetic causes of similar symptoms.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical significance. Our experts provide guidance on monitoring and further testing if needed.
Post-Test Support and Counseling
Every test includes:
- Detailed genetic counseling session to explain results
- Personalized recommendations for medical follow-up
- Family testing guidance and risk assessment
- Connection to support networks and resources
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | GM2A Gene Tay-Sachs Disease AB Variant NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Rate | $700 |
| Turnaround Time | Results in 3-4 Weeks | – |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card | – |
| Testing Method | Next-Generation Sequencing (NGS) | – |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with convenient locations in:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston and Texas metropolitan areas
- Phoenix and Arizona locations
- All major metropolitan areas nationwide
Pre-Test Requirements and Preparation
Essential Pre-Test Components
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session with our certified genetic counselors
- Detailed pedigree chart documenting family members affected with Tay-Sachs disease AB variant
- Informed consent for genetic testing
Take Action Today
Don’t wait to get the genetic information you need for informed healthcare decisions. Our team of genetic specialists is ready to guide you through the testing process and provide the support you need.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your GM2A Gene Tay-Sachs Disease AB Variant NGS Genetic DNA Test. Our compassionate team understands the emotional aspects of genetic testing and is committed to providing personalized care throughout your journey.
Take the first step toward understanding your genetic health and making empowered decisions for your family’s future. Contact us now to learn more about this comprehensive genetic testing option and our current special pricing.
