PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency Cytosolic NGS Genetic DNA Test
Introduction
The PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency Cytosolic NGS Genetic DNA Test is an advanced diagnostic tool designed to identify mutations in the PCK1 gene, which plays a crucial role in metabolic processes. Understanding genetic disorders is essential for effective management and treatment of patients, particularly those exhibiting symptoms related to metabolic dysfunction.
What the Test Measures
This test detects specific genetic mutations associated with phosphoenolpyruvate carboxykinase deficiency, a metabolic disorder that can lead to significant health complications. By utilizing Next-Generation Sequencing (NGS) technology, the test provides a comprehensive analysis of the PCK1 gene.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those with a family history of metabolic disorders.
- Patients presenting symptoms such as hypoglycemia, metabolic acidosis, or failure to thrive.
- Individuals undergoing genetic counseling for inherited metabolic conditions.
Benefits of Taking the Test
Taking the PCK1 Gene test offers several advantages:
- Early identification of genetic defects can lead to timely intervention.
- Guides treatment options and lifestyle changes to manage the disorder.
- Provides valuable information for family planning and genetic counseling.
Understanding Your Results
Once the test results are available, a healthcare professional will assist in interpreting the findings. It’s essential to understand the implications of the results, including the potential for carrier status and the likelihood of passing the condition to offspring.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency Cytosolic NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
The test can be conducted using:
– Blood or Extracted DNA
– One drop of Blood on FTA Card
The expected turnaround time for results is approximately 3 to 4 weeks.
Pre-Test Instructions
Before undergoing the PCK1 Gene test, it is essential to have a genetic counseling session to discuss the clinical history and draw a pedigree chart of family members affected by phosphoenolpyruvate carboxykinase deficiency.
Branches Across Kenya
DNA Labs Kenya has branches in all major cities, making it convenient for you to access our services. We also offer a home sample collection service for your convenience.
Book Your Test Today!
Don’t wait to get the answers you need. Book the PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency Cytosolic NGS Genetic DNA Test today! For more information, call or WhatsApp us at +254711564616.
