HPRT1 Gene Lesch-Nyham Syndrome NGS Genetic DNA Test
Introduction
The HPRT1 Gene Lesch-Nyham Syndrome NGS Genetic DNA Test is a specialized diagnostic test that plays a vital role in identifying Lesch-Nyhan syndrome, a rare but serious neurological disorder. This condition arises from mutations in the HPRT1 gene, which is crucial for the metabolism of purines. The test employs advanced next-generation sequencing (NGS) technology to detect these mutations, offering precise insights into an individual’s genetic makeup.
What the Test Measures
This genetic test specifically measures mutations in the HPRT1 gene. By analyzing the DNA, healthcare providers can determine if an individual has the genetic predisposition to develop Lesch-Nyhan syndrome, allowing for early intervention and management.
Who Should Consider This Test?
Individuals who should consider the HPRT1 Gene Lesch-Nyham Syndrome NGS Genetic DNA Test include:
- Those exhibiting symptoms of neurological disorders such as developmental delays, self-injurious behavior, and movement disorders.
- Individuals with a family history of Lesch-Nyhan syndrome or related genetic disorders.
- Patients undergoing evaluation for unexplained neurological symptoms.
Benefits of Taking the Test
Taking the HPRT1 Gene Lesch-Nyham Syndrome NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of Lesch-Nyhan syndrome.
- Informed decision-making regarding treatment and management options.
- Enhanced understanding of family health history and potential genetic risks.
- Guidance for family planning and genetic counseling.
Understanding Your Results
Results from the HPRT1 Gene Lesch-Nyham Syndrome NGS Genetic DNA Test will provide insights into the presence or absence of mutations in the HPRT1 gene. A positive result indicates a genetic predisposition to Lesch-Nyhan syndrome, while a negative result suggests that no mutations were detected. It is essential to discuss results with a healthcare provider for appropriate interpretation and next steps.
Test Pricing
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| HPRT1 Gene Lesch-Nyham Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Booking the Test
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu, making it easy for you to access our services. To book the HPRT1 Gene Lesch-Nyham Syndrome NGS Genetic DNA Test, call or WhatsApp us at +254746849631.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The test can be performed using blood samples or extracted DNA, including one drop of blood on an FTA card. Prior to the test, a clinical history and genetic counseling session are recommended to draw a pedigree chart of family members affected by the HPRT1 gene mutation.
