PCBD1 Gene Hyperphenylalaninemia BH4 Deficient Type D NGS Genetic DNA Test
Introduction
The PCBD1 Gene Hyperphenylalaninemia BH4 Deficient Type D NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify specific genetic mutations associated with Hyperphenylalaninemia, a metabolic disorder affecting phenylalanine metabolism. This test is crucial for early diagnosis and intervention, allowing for better management of the condition.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to detect mutations in the PCBD1 gene. By analyzing the genetic makeup, the test provides insights into the body’s ability to process phenylalanine, an amino acid that can accumulate to toxic levels if not properly metabolized.
Who Should Consider This Test
Individuals who should consider undergoing the PCBD1 Gene Hyperphenylalaninemia test include:
- Patients with symptoms of metabolic disorders such as developmental delays or neurological issues.
- Individuals with a family history of Hyperphenylalaninemia or related metabolic disorders.
- Newborns showing signs of elevated phenylalanine levels.
Benefits of Taking the Test
- Early detection of metabolic disorders, allowing for timely intervention.
- Access to personalized management plans based on genetic results.
- Informed family planning and genetic counseling for affected families.
Understanding Your Results
Results from the PCBD1 Gene Hyperphenylalaninemia test will indicate the presence or absence of mutations in the PCBD1 gene. A genetic counseling session is recommended to help interpret the results and discuss potential implications for health and family members.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Sample Collection and Turnaround Time
The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Results are typically available within 3 to 4 weeks.
Book Your Test Today!
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. We also offer a convenient home sample collection service. Don’t wait—book your PCBD1 Gene Hyperphenylalaninemia BH4 Deficient Type D NGS Genetic DNA Test today! Call or WhatsApp us at +254711564616 for more information.
