PC Gene Leigh Syndrome Due to Pyruvate Carboxylase Deficiency NGS Genetic DNA Test
Introduction
The PC Gene Leigh Syndrome due to Pyruvate Carboxylase Deficiency NGS Genetic DNA Test is a specialized diagnostic test designed to identify genetic mutations associated with Leigh syndrome, a severe neurological disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide a comprehensive analysis of the PC gene, which plays a crucial role in energy metabolism within the brain. Early detection is vital for managing symptoms and improving the quality of life for affected individuals.
What the Test Measures
This genetic test specifically measures alterations in the PC gene, which can lead to pyruvate carboxylase deficiency. By analyzing the DNA, the test detects mutations that may be responsible for metabolic disruptions and neurological symptoms associated with Leigh syndrome.
Who Should Consider This Test
Individuals with a family history of Leigh syndrome or those presenting symptoms such as developmental delays, neurological deterioration, or metabolic issues should consider this test. Risk factors include:
- Family history of Leigh syndrome
- Neurological symptoms or developmental delays in children
- Unexplained metabolic disorders
Benefits of Taking the Test
Taking the PC Gene Leigh Syndrome NGS Genetic DNA Test provides numerous benefits, including:
- Accurate diagnosis of genetic conditions
- Guidance for treatment options and management strategies
- Informed family planning and genetic counseling
- Understanding the risk of passing on genetic conditions to future generations
Understanding Your Results
Results from the test will be provided in a detailed report that outlines any detected mutations, their implications, and recommendations for further action. It is essential to consult with a healthcare professional or genetic counselor to interpret the results accurately and discuss potential next steps.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Booking Information
We have branches across Kenya, including major cities, and offer home sample collection services for your convenience. To take the first step towards understanding your genetic health, book the PC Gene Leigh Syndrome due to Pyruvate Carboxylase Deficiency NGS Genetic DNA Test today! You can 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: A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Leigh syndrome.
