HEXB Gene GM2 Gangliosidosis Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Sandhoff Disease
The HEXB Gene GM2 Gangliosidosis Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Sandhoff disease, a rare but devastating inherited metabolic disorder. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive evaluation of the HEXB gene, which plays a critical role in lipid metabolism within the nervous system.
What This Advanced Genetic Test Detects
This specialized test precisely identifies mutations in the HEXB gene that codes for the beta subunit of the enzyme beta-hexosaminidase. When this enzyme is deficient, GM2 gangliosides accumulate in nerve cells, leading to progressive neurological damage. The test specifically detects:
- Point mutations, deletions, and insertions in the HEXB gene
- Genetic variants responsible for reduced enzyme activity
- Inheritance patterns for autosomal recessive conditions
- Carrier status for Sandhoff disease
- Risk assessment for future generations
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals experiencing specific symptoms or with particular risk factors:
- Infants showing developmental regression after normal early development
- Children exhibiting muscle weakness, loss of motor skills, or exaggerated startle response
- Individuals with progressive vision problems or cherry-red spots in the eyes
- Couples with family history of GM2 gangliosidosis or Sandhoff disease
- Individuals from ethnic groups with higher carrier frequencies
- Those planning pregnancy with concerns about inherited metabolic disorders
Significant Benefits of Genetic Testing
Undergoing the HEXB Gene GM2 Gangliosidosis Type 2 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of genetic mutations causing Sandhoff disease
- Family Planning Guidance: Enables informed reproductive decisions for at-risk couples
- Early Intervention: Facilitates timely management strategies for affected individuals
- Genetic Counseling: Supports comprehensive family risk assessment and education
- Peace of Mind: Offers clarity for individuals with family history concerns
- Research Contribution: Helps advance understanding of rare metabolic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of HEXB gene mutations associated with Sandhoff disease
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but typically don’t show symptoms
- Negative Result: Suggests no detected mutations in the HEXB gene, though rare variants may not be identified
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for interpretation
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session
Nationwide Testing Availability
We proudly offer the HEXB Gene GM2 Gangliosidosis Type 2 NGS Genetic DNA Test across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive the highest quality care and support throughout the testing process.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited metabolic disorders affect your family’s future. Our comprehensive genetic testing provides the answers you need for informed healthcare decisions. With advanced NGS technology and expert interpretation, you can trust our results for accurate diagnosis and genetic counseling.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your HEXB Gene GM2 Gangliosidosis Type 2 NGS Genetic DNA Test. Take the first step toward understanding your genetic health and securing your family’s future.
