PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency NGS Genetic DNA Test
Introduction
The PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency NGS Genetic DNA Test is a crucial diagnostic tool for identifying genetic mutations associated with metabolic disorders. This test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive insights into the PHGDH gene, which plays a vital role in the body’s metabolic processes. Understanding your genetic predisposition can significantly impact your health management and treatment options.
What the Test Measures
This genetic test specifically measures mutations in the PHGDH gene that can lead to phosphoglycerate dehydrogenase deficiency, a rare metabolic disorder. By analyzing the genetic code, the test can identify any abnormalities that may affect the enzyme’s function, leading to various health complications.
Who Should Consider This Test
Individuals experiencing symptoms related to metabolic disorders, or those with a family history of such conditions, should consider this test. Symptoms may include developmental delays, neurological issues, or metabolic crises. Additionally, those who have risk factors associated with genetic disorders may benefit from this testing.
Benefits of Taking the Test
- Early diagnosis of metabolic disorders.
- Informed decision-making regarding treatment options.
- Guidance for family planning and genetic counseling.
- Access to tailored healthcare interventions.
Understanding Your Results
Results from the PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency test will be provided in a comprehensive report. It is essential to consult with a healthcare professional to interpret these results accurately. They can help you understand the implications of your results and the next steps for management or treatment.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Booking Your Test
To book the PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to schedule your appointment. Our team is ready to assist you with any inquiries and guide you through the testing process.
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 phosphoglycerate dehydrogenase deficiency are required.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
