Huntington Disease HD Mutation Screening
Understanding Huntington Disease Genetic Testing
Huntington Disease HD Mutation Screening represents a crucial advancement in predictive genetic medicine, offering individuals with family history or early symptoms the opportunity to understand their genetic predisposition to this progressive neurological disorder. Huntington’s disease is an inherited condition characterized by the gradual degeneration of nerve cells in the brain, leading to significant motor, cognitive, and psychiatric symptoms that typically manifest between ages 30-50.
What Does This Test Measure?
The Huntington Disease HD Mutation Screening specifically detects CAG trinucleotide repeat expansions in the huntingtin (HTT) gene located on chromosome 4. This genetic marker serves as the definitive diagnostic indicator for Huntington’s disease:
- Normal range: Less than 27 CAG repeats
- Intermediate range: 27-35 CAG repeats (carrier status)
- Disease-causing range: 36 or more CAG repeats
The test utilizes sophisticated End Point PCR technology to precisely quantify these repeat sequences, providing accurate and reliable results for clinical decision-making.
Who Should Consider Huntington Disease Testing?
Primary Candidates for Screening
This genetic screening is particularly recommended for individuals experiencing early symptoms or those with known family history:
- Individuals with a parent diagnosed with Huntington’s disease
- People experiencing early motor symptoms including involuntary movements, clumsiness, or balance issues
- Those noticing cognitive changes such as memory lapses, difficulty concentrating, or impaired judgment
- Individuals with mood disturbances including depression, anxiety, or personality changes
- Couples planning pregnancy with family history of Huntington’s
- Adults seeking predictive testing for future healthcare planning
Early Warning Signs
Early detection is crucial for optimal management. Watch for these potential indicators:
- Subtle involuntary movements (chorea)
- Difficulty with coordination and balance
- Changes in handwriting or fine motor skills
- Memory problems and cognitive decline
- Mood swings and emotional instability
- Difficulty with complex tasks and problem-solving
Benefits of Huntington Disease HD Mutation Screening
Proactive Healthcare Management
Early genetic testing provides numerous advantages for individuals and families:
- Early Intervention: Enables timely medical management and treatment planning
- Family Planning: Supports informed reproductive decisions
- Psychological Preparation: Reduces uncertainty and anxiety about genetic risk
- Clinical Trial Eligibility: Opens opportunities for participation in emerging therapies
- Lifestyle Planning: Facilitates appropriate financial and career planning
- Support Network Building: Allows time to establish necessary support systems
Medical and Personal Advantages
The screening process offers comprehensive benefits beyond simple diagnosis:
- Accurate risk assessment for future healthcare needs
- Opportunity for specialized neurological care coordination
- Access to Huntington’s disease specialists and support groups
- Enhanced quality of life through proactive symptom management
- Reduced diagnostic uncertainty and medical costs
Understanding Your Test Results
Interpreting Genetic Findings
Your Huntington Disease HD Mutation Screening results will fall into one of several categories, each with specific implications:
Normal Results (Negative)
A result showing fewer than 27 CAG repeats indicates you do not carry the Huntington’s disease mutation and will not develop the condition. This provides significant psychological relief and eliminates genetic risk for your children.
Intermediate Range
Results between 27-35 CAG repeats suggest carrier status. While you won’t develop Huntington’s disease yourself, there’s a risk of expansion to disease-causing levels in future generations. Genetic counseling is recommended.
Positive Results
A finding of 36 or more CAG repeats confirms the Huntington’s disease mutation. This result indicates you will develop symptoms, though the age of onset and severity can vary. Comprehensive genetic counseling and medical follow-up are essential.
Next Steps After Testing
Regardless of your results, our genetic counseling team provides:
- Detailed explanation of findings and implications
- Referrals to appropriate medical specialists
- Psychological support services
- Family communication guidance
- Long-term healthcare planning assistance
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | Huntington Disease HD Mutation Screening | – |
| Discount Price | Limited Time Offer | $200 |
| Regular Price | Standard Rate | $250 |
| Turnaround Time | Results Available | 7 Days |
| Sample Type | Collection Method | Peripheral Blood |
| Test Components | Required Materials | EDTA Vacutainer (2ml) |
| Testing Method | Laboratory Technology | End Point PCR |
Pre-Test Requirements
Huntington Disease HD Mutation Screening requires a Doctor’s prescription for most cases. Prescription requirements do not apply for surgical clearance, pregnancy-related testing, or international travel documentation purposes. Our team can assist with obtaining necessary medical documentation.
Nationwide Accessibility
GGC DNA maintains comprehensive testing facilities across the United States, ensuring convenient access to Huntington Disease HD Mutation Screening in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories maintain the highest standards of accuracy and reliability.
Take Control of Your Genetic Health
Don’t let uncertainty about Huntington’s disease risk impact your future planning and peace of mind. Our compassionate genetic counseling team and advanced testing capabilities provide the clarity you need for informed healthcare decisions.
Ready to schedule your Huntington Disease HD Mutation Screening? Contact our genetic specialists today to discuss your testing options and schedule your appointment.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team is available to answer your questions, explain the testing process, and help you take the next step toward genetic clarity and proactive healthcare management.

