HEXB Gene Sandhoff Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Sandhoff Disease
The HEXB Gene Sandhoff Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the HEXB gene, which is responsible for Sandhoff disease. This rare inherited metabolic disorder affects the nervous system and can have devastating consequences if not identified early. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations that traditional methods might miss.
What Does This Test Measure?
This specialized genetic test specifically analyzes the HEXB gene located on chromosome 5, which encodes the beta subunit of the beta-hexosaminidase enzyme. The test detects:
- Point mutations, deletions, and insertions in the HEXB gene
- Genetic variations affecting beta-hexosaminidase enzyme production
- Mutations that lead to GM2 ganglioside accumulation in nerve cells
- Carrier status for Sandhoff disease inheritance patterns
Who Should Consider This Test?
This genetic testing is recommended for individuals experiencing:
- Progressive neurological deterioration in infancy or childhood
- Muscle weakness and loss of motor skills
- Seizures and exaggerated startle response
- Cherry-red spots in the eyes detected during ophthalmological examination
- Family history of Sandhoff disease or related metabolic disorders
- Couples planning pregnancy with known family history of Tay-Sachs or Sandhoff disease
Key Benefits of HEXB Gene Testing
- Early Diagnosis: Enables timely intervention and management strategies
- Carrier Detection: Identifies individuals who carry one copy of the mutated gene
- Family Planning: Provides crucial information for reproductive decision-making
- Accurate Prognosis: Helps predict disease progression and severity
- Targeted Treatment: Supports development of personalized care plans
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Indicates the presence of HEXB gene mutations associated with Sandhoff disease
- Carrier Status: Shows you carry one copy of the mutated gene but won’t develop the disease
- Negative Result: No disease-causing mutations detected in the HEXB gene
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact requiring further evaluation
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | HEXB Gene Sandhoff Disease NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing the HEXB Gene Sandhoff Disease NGS Genetic DNA Test, patients must complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Development of detailed pedigree chart mapping family members affected by Sandhoff disease
- Discussion of potential outcomes and implications of test results
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about Sandhoff disease risk. Our expert team of genetic specialists is ready to guide you through the testing process and provide comprehensive support. Early detection through HEXB gene testing can make a significant difference in managing this rare metabolic disorder.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your HEXB Gene Sandhoff Disease NGS Genetic DNA Test and take the first step toward understanding your genetic health.
