HEXB Gene Sandhoff Disease NGS Genetic DNA Test
Introduction to the HEXB Gene Sandhoff Disease NGS Genetic DNA Test
The HEXB Gene Sandhoff Disease NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the HEXB gene, which are responsible for Sandhoff disease, a rare metabolic disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide a comprehensive analysis of the genetic material, allowing for accurate detection of genetic abnormalities.
What the Test Measures/Detects
This genetic test specifically measures mutations in the HEXB gene, which plays a crucial role in the metabolism of certain lipids. By detecting these mutations, healthcare providers can confirm a diagnosis of Sandhoff disease, which is characterized by the accumulation of harmful substances in the brain and other organs.
Who Should Consider This Test?
Individuals or families with a history of Sandhoff disease or other metabolic disorders should consider this test. Symptoms may include:
- Developmental delays
- Neurological symptoms
- Vision and hearing loss
- Seizures
Risk factors include a family history of the disease, particularly in families of Ashkenazi Jewish descent.
Benefits of Taking the Test
- Early diagnosis, which can lead to better management of the disease.
- Informed family planning decisions for at-risk couples.
- Access to appropriate medical and supportive care.
Understanding Your Results
Results from the HEXB Gene Sandhoff Disease NGS Genetic DNA Test typically take 3 to 4 weeks. A genetic counselor will help interpret the results and discuss implications for the individual and their family. Positive results indicate the presence of mutations associated with Sandhoff disease, while negative results suggest that the individual does not carry the identified mutations.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| HEXB Gene Sandhoff Disease NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. Our dedicated team is ready to assist you with home sample collection services. To book the HEXB Gene Sandhoff Disease NGS Genetic DNA Test or for more information, please call or WhatsApp us at +254711564616.
