Huntington Disease Mutation Detection Test
Introduction
The Huntington Disease Mutation Detection Test is a genetic test designed to identify mutations in the HTT gene that are responsible for Huntington’s disease, a progressive neurodegenerative disorder. This test is crucial for individuals who have a family history of the disease, as it allows for early diagnosis and management of the condition.
What the Test Measures
This test detects specific genetic mutations in the HTT gene. The presence of these mutations indicates an increased risk of developing Huntington’s disease, which can lead to severe neurological symptoms, including movement disorders, cognitive decline, and psychiatric issues.
Who Should Consider This Test
Individuals who should consider the Huntington Disease Mutation Detection Test include:
- Those with a family history of Huntington’s disease.
- Individuals experiencing early symptoms such as involuntary movements, changes in mood, or cognitive difficulties.
- People seeking information about their genetic risk for planning family or treatment options.
Benefits of Taking the Test
Taking the Huntington Disease Mutation Detection Test offers several benefits:
- Early detection of genetic mutations allows for timely medical intervention and management.
- Understanding your genetic risk can help in making informed decisions about family planning.
- Access to support resources and counseling for individuals and families affected by Huntington’s disease.
Understanding Your Results
Upon receiving your test results, it is essential to consult with a healthcare professional, preferably a neurologist, to interpret the findings. A positive result indicates the presence of the mutation and a higher risk of developing the disease, while a negative result suggests a lower risk. However, it is important to note that not all individuals with the mutation will develop symptoms.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 160,000 NGN | 200,000 NGN |
Booking the Test
To book the Huntington Disease Mutation Detection Test, please ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20), which is mandatory. Sample collection requires 4 mL (2 mL min.) of whole blood in a lavender top (EDTA) tube, shipped refrigerated (DO NOT FREEZE). The turnaround time for results is 10 working days from the sample collection date.
For more information or to schedule your appointment, please call or WhatsApp us at +2348077798758.
