UMPS Gene Orotic Aciduria NGS Genetic DNA Test
Introduction to the Test
The UMPS Gene Orotic Aciduria NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the UMPS gene, which are linked to Orotic aciduria, a rare metabolic disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive results, allowing for early detection and intervention.
What the Test Measures
This test detects genetic mutations in the UMPS gene that lead to the accumulation of orotic acid in the body, a marker of metabolic disorders. By analyzing the genetic code, healthcare providers can determine the presence of mutations that may affect an individual’s metabolic processes.
Who Should Consider This Test?
This test is recommended for individuals exhibiting symptoms of Orotic aciduria, such as:
- Severe developmental delays
- Failure to thrive
- Neurological issues
- Signs of metabolic disorders
Additionally, those with a family history of metabolic disorders or genetic conditions should consider this test to assess their risk.
Benefits of Taking the Test
Taking the UMPS Gene Orotic Aciduria NGS Genetic DNA Test offers numerous benefits, including:
- Early diagnosis of metabolic disorders
- Informed family planning and genetic counseling
- Personalized treatment options based on genetic results
- Peace of mind for patients and families
Understanding Your Results
Results from the UMPS Gene Orotic Aciduria NGS Genetic DNA Test will indicate whether any mutations are present. A genetic counselor will help interpret these results, providing guidance on the implications for health and potential next steps.
Test Pricing
Test Name | Discount Price (KSh) | Regular Price (KSh) |
---|---|---|
UMPS Gene Orotic Aciduria NGS Genetic DNA Test | 40,000 | 56,000 |
Additional Information
The turnaround time for results is approximately 3 to 4 weeks. The test requires a sample type of blood or extracted DNA, or one drop of blood on an FTA card. Patients are advised to provide a clinical history and attend a genetic counseling session to draw a pedigree chart of affected family members.
Book Your Test Today
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. To schedule your UMPS Gene Orotic Aciduria NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Take the first step towards understanding your genetic health today!