DLAT Gene Pyruvate Dehydrogenase E2 Deficiency NGS Genetic DNA Test
Introduction
The DLAT Gene Pyruvate Dehydrogenase E2 Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect genetic mutations associated with pyruvate dehydrogenase E2 deficiency, a rare metabolic disorder. This test employs Next Generation Sequencing (NGS) technology to analyze the DLAT gene, providing crucial insights into the genetic underpinnings of this condition.
What the Test Measures
This test specifically measures variations in the DLAT gene that can lead to pyruvate dehydrogenase E2 deficiency. By identifying these genetic mutations, healthcare providers can better understand the metabolic pathways affected and tailor treatment plans accordingly.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those with a family history of metabolic disorders.
- Patients exhibiting symptoms such as neurological issues, developmental delays, and metabolic crises.
- Individuals undergoing genetic counseling for hereditary conditions.
Benefits of Taking the Test
Taking the DLAT Gene Pyruvate Dehydrogenase E2 Deficiency NGS Genetic DNA Test provides several advantages:
- Accurate identification of genetic mutations.
- Informed decision-making regarding treatment options.
- Enhanced understanding of the risk factors for family members.
- Guidance for lifestyle and dietary modifications to manage symptoms.
Understanding Your Results
Results from this test will indicate whether any mutations in the DLAT gene were detected. A genetic counselor can help interpret the results and provide guidance on the implications for health and treatment. Understanding these results is crucial for managing the condition effectively.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| DLAT Gene Pyruvate Dehydrogenase E2 Deficiency NGS Genetic DNA Test | 40000 KSh | 56000 KSh |
Book Your Test Today!
We have branches across all major cities in Kenya, making it easy for you to access our services. Additionally, we offer a home sample collection service for your convenience. Don’t wait to take control of your health—book the DLAT Gene Pyruvate Dehydrogenase E2 Deficiency NGS Genetic DNA Test today! For inquiries, call or WhatsApp us at +254711564616.
Test Details
- 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 and a genetic counseling session to draw a pedigree chart of family members affected with pyruvate dehydrogenase E2 deficiency.
- Specialty: General Physician
- Department: Genetics
- Method: NGS Technology
- Disease Type: Metabolic Disorders
