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 designed to identify mutations in the PDHB gene, which are responsible for Pyruvate Dehydrogenase E1beta deficiency, a rare metabolic disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive results, playing a crucial role in the early diagnosis and management of metabolic disorders.
What the Test Measures
This genetic test detects specific mutations in the PDHB gene that can lead to E1beta deficiency. By analyzing the genetic material, the test helps to identify individuals who may be predisposed to this condition, allowing for proactive health management.
Who Should Consider This Test
Individuals with a family history of metabolic disorders, particularly those showing symptoms such as developmental delays, neurological issues, or unexplained metabolic crises, should consider this test. Additionally, those with risk factors, including a personal or family history of E1beta deficiency, are encouraged to undergo testing.
Benefits of Taking the Test
- Early diagnosis of metabolic disorders, leading to timely intervention.
- Informed decision-making regarding health management.
- Access to genetic counseling and support for affected families.
- Understanding of potential health risks and preventive measures.
Understanding Your Results
Results from the PDHB Gene Pyruvate Dehydrogenase E1beta Deficiency test will provide insights into your genetic predisposition to this metabolic disorder. A genetic counselor will help interpret the results, guiding you through the implications for your health and any necessary follow-up actions.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PDHB Gene Pyruvate Dehydrogenase E1beta Deficiency NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Book the Test
To book the PDHB Gene Pyruvate Dehydrogenase E1beta Deficiency NGS Genetic DNA Test, please contact us at +2348077798758 via call or WhatsApp. Our team is ready to assist you with scheduling your test and answering any questions you may have.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-test Instructions: Clinical history of the patient who is going for the test and a genetic counseling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase E1-beta deficiency.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
