Huntington Disease Mutation Detection Test
Understanding Huntington Disease Genetic Testing
Huntington Disease Mutation Detection Test represents a breakthrough in neurological genetic diagnostics, providing definitive answers for individuals concerned about their risk for Huntington’s disease. This sophisticated molecular analysis examines the HTT gene on chromosome 4, specifically targeting the CAG trinucleotide repeat expansion that characterizes this devastating neurodegenerative condition.
Huntington’s disease is an autosomal dominant disorder, meaning only one copy of the mutated gene is sufficient to cause the condition. Our advanced testing methodology offers unparalleled accuracy in detecting these genetic abnormalities, enabling early diagnosis and comprehensive family planning decisions.
What the Test Measures and Detects
The Huntington Disease Mutation Detection Test specifically analyzes:
- CAG trinucleotide repeat expansions in the HTT gene
- Exact repeat length quantification
- Genetic mutation status (normal, intermediate, or expanded alleles)
- Risk assessment for disease development and progression
Using state-of-the-art PCR fragment analysis technology, our test provides precise measurement of CAG repeat lengths. Normal alleles typically contain 10-26 CAG repeats, while expanded alleles with 40 or more repeats confirm Huntington’s disease diagnosis. Intermediate ranges (27-35 repeats) may indicate potential for expansion in future generations.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing:
- Unexplained involuntary movements (chorea)
- Progressive cognitive decline or dementia
- Emotional disturbances and personality changes
- Family history of Huntington’s disease
- Planning for pregnancy with family HD history
- Early neurological symptoms without clear diagnosis
At-Risk Populations
Individuals with first-degree relatives diagnosed with Huntington’s disease have a 50% chance of inheriting the mutated gene. Our test provides crucial information for:
- Children of affected parents
- Siblings of diagnosed individuals
- Individuals with suggestive neurological symptoms
- Those considering genetic counseling and family planning
Benefits of Huntington Disease Genetic Testing
Undergoing the Huntington Disease Mutation Detection Test offers numerous advantages:
Early Diagnosis and Intervention
Early detection enables proactive management strategies, including:
- Timely neurological care and symptom management
- Access to emerging treatments and clinical trials
- Comprehensive care planning with multidisciplinary teams
- Improved quality of life through early intervention
Family Planning and Genetic Counseling
Our test results empower informed decisions about:
- Reproductive choices and options
- Preimplantation genetic diagnosis (PGD)
- Prenatal testing considerations
- Family communication and support planning
Psychological Benefits
Genetic testing provides:
- Resolution of uncertainty and anxiety
- Opportunity for psychological preparation
- Access to support networks and resources
- Enhanced coping strategies and mental health support
Understanding Your Test Results
Result Interpretation Guidelines
Our comprehensive report includes detailed interpretation:
Normal Results (10-26 CAG Repeats)
Individuals with normal CAG repeat lengths do not carry the Huntington’s disease mutation and will not develop the condition. However, genetic counseling is still recommended for comprehensive understanding.
Intermediate Alleles (27-35 CAG Repeats)
Intermediate results indicate the individual will not develop Huntington’s disease but may pass expanded alleles to offspring. Genetic counseling is essential for family planning decisions.
Expanded Alleles (36-39 CAG Repeats)
Reduced penetrance range indicates potential for developing Huntington’s disease with variable age of onset and symptom severity.
Full Penetrance (40+ CAG Repeats)
Confirmed diagnosis of Huntington’s disease. The number of repeats often correlates with earlier age of onset and disease progression.
Post-Test Counseling and Support
All positive results include:
- Comprehensive genetic counseling session
- Referral to neurological specialists
- Access to support groups and resources
- Long-term care planning assistance
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $200 USD |
| Regular Price | $250 USD |
Test Specifications
- Turnaround Time: Sample by Tuesday 11 AM; Report in 10 Working Days
- Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube
- Shipping: Refrigerated transport required (DO NOT FREEZE)
- Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20)
- Testing Method: PCR Fragment Analysis
- Specialty: Neurology
- Department: Molecular Diagnostics
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, serving patients in all major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Miami, Orlando, and Florida centers
- Seattle, Portland, and Pacific Northwest locations
- Boston, Philadelphia, and Northeast regions
Our network of certified laboratories ensures consistent, high-quality testing standards nationwide, with convenient sample collection centers in every major city.
Take Control of Your Genetic Health Today
Don’t let uncertainty about Huntington’s disease affect your future. Our Huntington Disease Mutation Detection Test provides the clarity and information you need to make informed healthcare decisions. With our current discount pricing at only $200 USD, now is the perfect time to take this important step toward understanding your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your test or speak with our genetic counseling team. Our compassionate professionals are ready to guide you through every step of the testing process, from initial consultation to comprehensive result interpretation and ongoing support.
Early detection through genetic testing can significantly impact your quality of life and future planning. Contact us now to book your Huntington Disease Mutation Detection Test and take the first step toward genetic clarity and peace of mind.
