HEXA Gene Tay-Sachs Disease NGS Genetic DNA Test
Comprehensive Genetic Screening for Tay-Sachs Disease
The HEXA Gene Tay-Sachs Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics, offering unparalleled accuracy in detecting mutations associated with Tay-Sachs disease. This inherited metabolic disorder affects the nervous system and can have devastating consequences if not identified early. Our advanced next-generation sequencing technology provides comprehensive analysis of the HEXA gene, enabling healthcare providers to make informed decisions about patient care and family planning.
What Does This Test Measure?
This sophisticated genetic test specifically targets and analyzes the HEXA gene, which encodes the enzyme hexosaminidase A. When this enzyme is deficient due to genetic mutations, harmful substances called GM2 gangliosides accumulate in nerve cells, leading to the progressive neurological deterioration characteristic of Tay-Sachs disease. The NGS technology employed in this test:
- Sequences the entire HEXA gene with exceptional precision
- Identifies known pathogenic mutations and novel variants
- Detects carrier status for recessive inheritance patterns
- Provides comprehensive mutation analysis for accurate risk assessment
Who Should Consider This Test?
Genetic testing for Tay-Sachs disease is recommended for several key populations:
- Individuals with family history: Those with relatives diagnosed with Tay-Sachs disease or known carriers
- Couples planning pregnancy: Especially those of Ashkenazi Jewish, French-Canadian, or Cajun descent where carrier rates are higher
- Individuals experiencing neurological symptoms: Including developmental regression, muscle weakness, or vision problems
- Prenatal screening: For at-risk pregnancies to assess fetal health
- Newborn screening follow-up: When initial tests suggest possible enzyme deficiencies
Key Benefits of HEXA Gene Testing
Choosing our comprehensive genetic screening offers numerous advantages:
- Early Detection: Identify genetic risks before symptoms develop
- Informed Family Planning: Make educated decisions about pregnancy and genetic counseling
- Accurate Diagnosis: Differentiate Tay-Sachs from other neurological conditions
- Carrier Identification: Determine inheritance risks for future generations
- Peace of Mind: Gain clarity about genetic health status
- Proactive Healthcare: Enable early intervention and management strategies
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Normal Results: No pathogenic mutations detected in the HEXA gene
- Carrier Status: One copy of a mutated gene identified (25% risk of affected child if both parents are carriers)
- Affected Status: Two mutated copies detected, indicating Tay-Sachs disease
- Variant of Unknown Significance: Genetic changes with unclear clinical implications requiring further evaluation
All positive results include comprehensive genetic counseling to help you understand the implications and next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | HEXA Gene Tay-Sachs Disease NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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
To ensure the most accurate results, we recommend:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications with healthcare provider
- Informed consent understanding the benefits and limitations
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing 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. Our network of certified genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take Control of Your Genetic Health Today
Don’t leave your genetic health to chance. The HEXA Gene Tay-Sachs Disease NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. Our team of genetic specialists is ready to guide you through every step of the process, from initial consultation to result interpretation.
Ready to schedule your genetic screening? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
Note: This test is performed in our CLIA-certified laboratory following strict quality control standards. All testing includes genetic counseling to ensure proper understanding and interpretation of results.
