PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test
Introduction to the Test
The PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test is a state-of-the-art diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to analyze genetic variations associated with pyruvate carboxylase deficiency, a rare metabolic disorder. This test is vital for early diagnosis and management of the condition, potentially leading to better health outcomes for affected individuals.
What the Test Measures
This genetic test measures specific mutations in the PC gene that can lead to pyruvate carboxylase deficiency. By identifying these mutations, healthcare providers can offer tailored treatment options and genetic counseling to patients and their families.
Who Should Consider This Test?
Individuals who should consider the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test include:
- Patients with a family history of metabolic disorders.
- Individuals exhibiting symptoms such as developmental delays, neurological issues, or metabolic crises.
- Those seeking genetic counseling to understand their risks and the implications for family planning.
Benefits of Taking the Test
The benefits of the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test include:
- Early detection of genetic mutations, leading to timely intervention.
- Informed decision-making regarding treatment and family planning.
- Access to specialized care and resources for managing the condition.
Understanding Your Results
Results from the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test will provide insights into any identified mutations. It is essential to discuss these results with a healthcare provider to understand their implications and to develop a personalized care plan.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To take the next step in understanding your genetic health, book the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test today. Contact us at +2348077798758 via call or WhatsApp to schedule your appointment.
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 carboxylase deficiency.
This test is conducted under the supervision of experienced General Physicians in the Genetics department, ensuring accurate and reliable results.
