PDHB Gene Pyruvate Dehydrogenase E1beta Deficiency NGS Genetic DNA Test
Introduction
The PDHB Gene Pyruvate Dehydrogenase E1beta Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a vital role in identifying genetic mutations that lead to metabolic disorders. This test employs Next Generation Sequencing (NGS) technology, allowing for a comprehensive analysis of the PDHB gene, which is crucial in the metabolic pathway that converts carbohydrates into energy.
What the Test Measures
This test specifically measures mutations in the PDHB gene, which can result in Pyruvate Dehydrogenase E1beta deficiency. This deficiency can lead to serious metabolic complications, making early diagnosis essential for effective management and treatment.
Who Should Consider This Test
Individuals who exhibit symptoms such as developmental delays, neurological issues, or unexplained metabolic problems should consider this test. Additionally, those with a family history of metabolic disorders or genetic conditions should seek this test as a proactive measure.
Benefits of Taking the Test
- Early diagnosis of metabolic disorders.
- Informed decision-making regarding treatment options.
- Peace of mind for patients and families through understanding genetic risks.
- Guidance for future family planning and management strategies.
Understanding Your Results
Once the test is completed, results will be interpreted by qualified genetic counselors and healthcare professionals. They will provide insights into the findings, implications for health, and recommendations for further action or treatment.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PDHB Gene Pyruvate Dehydrogenase E1beta Deficiency NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history of the patient is necessary, along with a genetic counseling session to create a pedigree chart of family members affected by Pyruvate Dehydrogenase E1beta deficiency.
Book Your Test Today!
We have branches across all major cities in Kenya, making it convenient for you to access our services. To book the PDHB Gene Pyruvate Dehydrogenase E1beta Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Don’t wait for symptoms to worsen; take proactive steps in managing your health with our advanced genetic testing services.
