PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial NGS Genetic DNA Test
Introduction
The PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to analyze the PCK2 gene. This gene plays a crucial role in metabolic processes, and its deficiency can lead to serious health complications. Understanding the genetic basis of metabolic disorders is vital for effective management and treatment.
What the Test Measures
This genetic test detects mutations in the PCK2 gene that may cause phosphoenolpyruvate carboxykinase deficiency. It provides insights into the genetic factors contributing to metabolic disorders, allowing for a more accurate diagnosis.
Who Should Consider This Test?
Individuals experiencing symptoms such as unexplained metabolic issues, recurrent episodes of hypoglycemia, or those with a family history of metabolic disorders should consider this test. Risk factors include a known history of genetic metabolic conditions in the family.
Benefits of Taking the Test
- Accurate identification of genetic mutations related to metabolic disorders.
- Guides treatment options and management strategies for affected individuals.
- Provides critical information for family planning and genetic counseling.
- Helps in understanding the risk of passing on genetic disorders to offspring.
Understanding Your Results
Results from the PCK2 gene test will indicate whether any mutations are present. A genetic counselor will help interpret the results and discuss the implications for health and treatment options. It is essential to understand that not all mutations lead to disease, and further testing may be required.
Test Pricing
| Discount Price | 400,000 NGN |
|---|---|
| Regular Price | 560,000 NGN |
Booking the Test
To book the PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and guide you through the booking process.
Additional Information
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 undergoing the test is required, along with a genetic counseling session to draw a pedigree chart of family members affected by the condition.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
