QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test
Introduction
The QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test is an advanced diagnostic tool designed to detect genetic mutations associated with metabolic disorders, specifically hyperphenylalaninemia. This condition can lead to severe neurological issues if not diagnosed and managed early. By utilizing Next-Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the QDPR gene, which plays a critical role in phenylalanine metabolism.
What the Test Measures
This test measures genetic variations in the QDPR gene, which are responsible for BH4 deficiency leading to elevated levels of phenylalanine in the blood. Early detection through this test can prevent the onset of severe symptoms and complications associated with hyperphenylalaninemia.
Who Should Consider This Test?
Individuals who should consider undergoing the QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test include:
- Those with symptoms such as developmental delays, cognitive impairments, or neurological issues.
- Individuals with a family history of hyperphenylalaninemia or related metabolic disorders.
- Newborns who have shown elevated phenylalanine levels in routine screening tests.
Benefits of Taking the Test
The benefits of the QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test include:
- Accurate identification of genetic mutations associated with hyperphenylalaninemia.
- Guidance for personalized treatment plans and dietary management.
- Early intervention can significantly improve health outcomes and quality of life.
- Informed family planning and genetic counseling for affected families.
Understanding Your Results
Upon completion of the test, results will be provided with a detailed explanation of any identified mutations. It is crucial to consult with a healthcare professional or genetic counselor to interpret these results accurately and discuss potential next steps in management or treatment.
Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait to understand your genetic health. Book the QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C NGS Genetic DNA Test today! For inquiries or to schedule your appointment, please call or WhatsApp us at +2348077798758.
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 Patient who is going for QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic DNA Test and a Genetic Counselling session to draw a pedigree chart of family members affected with Hyperphenylalaninemia, BH4 deficient, type C.
