PTS Gene Hyperphenylalaninemia BH4 Deficient Type A NGS Genetic DNA Test
Introduction
The PTS Gene Hyperphenylalaninemia BH4 Deficient Type A NGS Genetic DNA Test is a specialized diagnostic tool designed to identify genetic mutations associated with metabolic disorders, particularly Hyperphenylalaninemia. This condition can lead to severe neurological issues if not diagnosed and managed promptly. By utilizing Next Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the PTS gene, which is essential for phenylalanine metabolism.
What Does the Test Measure?
This test measures specific mutations in the PTS gene that can result in BH4 deficiency. It is crucial for understanding the underlying genetic factors contributing to Hyperphenylalaninemia, thereby enabling timely interventions.
Who Should Consider This Test?
Individuals with a family history of Hyperphenylalaninemia or those presenting symptoms such as developmental delays, seizures, or intellectual disabilities should consider this test. Additionally, newborns who fail the standard newborn screening for metabolic disorders may benefit from this genetic analysis.
Benefits of Taking the Test
- Early detection of genetic disorders, allowing for timely treatment and management.
- Informed family planning and genetic counseling options for affected families.
- Personalized medical care based on genetic predispositions.
- Peace of mind through understanding one’s genetic health.
Understanding Your Results
Results from the PTS Gene Hyperphenylalaninemia BH4 Deficient Type A NGS Genetic DNA Test will provide insights into whether specific mutations are present. A genetic counselor or healthcare provider will help interpret the results and discuss potential implications for health and treatment options.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PTS Gene Hyperphenylalaninemia BH4 Deficient Type A NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To schedule your PTS Gene Hyperphenylalaninemia BH4 Deficient Type A NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with booking and any questions you may have.
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 the patient undergoing the test is required, along with a genetic counseling session to draw a pedigree chart of family members affected by Hyperphenylalaninemia, BH4-deficient, type A.
Take control of your health today by understanding your genetic risks with the PTS Gene Hyperphenylalaninemia BH4 Deficient Type A NGS Genetic DNA Test. Book now!
