PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test
Introduction
The PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool that helps identify mutations in the PC gene, which are responsible for pyruvate carboxylase deficiency. This rare genetic disorder affects the body’s ability to convert certain nutrients into energy, leading to neurological complications. Understanding your genetic predisposition is crucial for early diagnosis and management.
What the Test Measures
This test detects specific genetic mutations in the PC gene, which can lead to pyruvate carboxylase deficiency. By analyzing the DNA, the test provides comprehensive insights into the genetic factors that may contribute to neurological disorders.
Who Should Consider This Test
Individuals with a family history of neurological disorders or symptoms such as developmental delays, seizures, or metabolic issues should consider this test. It is especially relevant for those who have been diagnosed with or are at risk for pyruvate carboxylase deficiency.
Benefits of Taking the Test
- Early detection of genetic disorders, allowing for timely intervention.
- Informed decision-making regarding family planning and management options.
- Access to specialized care and treatment based on genetic findings.
- Peace of mind for individuals and families regarding their health risks.
Understanding Your Results
Results from the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test will be interpreted by qualified genetic counselors and healthcare professionals. They will provide guidance on the implications of the results and discuss potential next steps for management or treatment.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and answer any questions you may have.
Pre-Test Instructions
Before taking the test, it is essential to provide a clinical history and attend a genetic counseling session. This session will help in drawing a pedigree chart of family members affected by PC Gene Pyruvate Carboxylase Deficiency, ensuring a comprehensive understanding of your family’s genetic background.
Turnaround Time and Sample Type
The turnaround time for results is approximately 3 to 4 weeks. The test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card.
Specialty and Department
This test is conducted under the specialty of Neurology, within the Genetics department, utilizing advanced NGS technology to ensure accurate and reliable results.
