PTS Gene Hyperphenylalaninemia BH4deficient Type A NGS Genetic DNA Test
Introduction
The PTS Gene Hyperphenylalaninemia BH4deficient Type A NGS Genetic DNA Test is a vital diagnostic tool for identifying metabolic disorders related to phenylalanine metabolism. This test employs Next Generation Sequencing (NGS) technology to detect mutations in the PTS gene, which plays a critical role in the body’s ability to process amino acids. Early diagnosis through this test can lead to timely intervention, significantly improving patient outcomes.
What the Test Measures
This genetic test specifically measures the presence of mutations in the PTS gene, which can lead to BH4 deficiency and subsequently hyperphenylalaninemia. By identifying these mutations, healthcare providers can better understand the metabolic status of the patient and tailor appropriate treatment plans.
Who Should Consider This Test
Individuals who should consider the PTS Gene Hyperphenylalaninemia BH4deficient Type A NGS Genetic DNA Test include:
- Patients exhibiting symptoms of metabolic disorders, such as developmental delays or neurological issues.
- Individuals with a family history of hyperphenylalaninemia or related metabolic conditions.
- Newborns identified through screening programs as at risk for metabolic disorders.
Benefits of Taking the Test
- Accurate diagnosis of hyperphenylalaninemia, allowing for timely and effective treatment.
- Informed family planning through genetic counseling based on test results.
- Access to specialized care and dietary management to prevent complications.
Understanding Your Results
Results from the PTS Gene Hyperphenylalaninemia BH4deficient Type A NGS Genetic DNA Test will indicate whether mutations are present. A healthcare provider will guide you through the interpretation of these results, discussing potential implications for treatment and management strategies.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PTS Gene Hyperphenylalaninemia BH4deficient Type A NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Booking Information
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. You can also opt for our home sample collection service for your convenience. To book your test, please call or WhatsApp us at +254711564616. Don’t wait to get the answers you need for your health!
Pre-Test Instructions
Before taking the PTS Gene Hyperphenylalaninemia BH4deficient Type A NGS Genetic DNA Test, it is essential to provide a clinical history and undergo a genetic counseling session. This session will help draw a pedigree chart of family members affected by hyperphenylalaninemia, ensuring a thorough understanding of your family’s medical background.
