GCH1 Gene Hyperphenylalaninemia BH4deficient B NGS Genetic DNA Test
Introduction
The GCH1 Gene Hyperphenylalaninemia BH4deficient B NGS Genetic DNA Test is a crucial diagnostic tool for identifying genetic disorders that affect the metabolism of phenylalanine, an amino acid essential for normal bodily function. This test utilizes Next-Generation Sequencing (NGS) technology to analyze the GCH1 gene, which plays a significant role in the production of tetrahydrobiopterin (BH4), a cofactor necessary for the metabolism of phenylalanine.
What the Test Measures
This test detects mutations in the GCH1 gene that may lead to BH4 deficiency, which can result in elevated levels of phenylalanine in the blood. High phenylalanine levels can cause neurological disorders and developmental delays.
Who Should Consider This Test
Individuals who may benefit from the GCH1 Gene Hyperphenylalaninemia BH4deficient B NGS Genetic DNA Test include:
- Patients exhibiting symptoms of neurological disorders.
- Individuals with a family history of hyperphenylalaninemia or related conditions.
- Patients diagnosed with developmental delays or intellectual disabilities without a clear cause.
Benefits of Taking the Test
Taking this test offers several advantages:
- Early diagnosis of genetic disorders, allowing for timely intervention.
- Informed family planning and genetic counseling for affected families.
- Understanding potential health risks associated with BH4 deficiency.
Understanding Your Results
Results from the GCH1 Gene Hyperphenylalaninemia BH4deficient B NGS Genetic DNA Test will indicate whether mutations are present in the GCH1 gene. A genetic counselor or physician will help interpret these results, providing guidance on potential health implications and management strategies.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 KSh |
| Regular Price | 56,000 KSh |
Test Logistics
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history review and a genetic counseling session to draw a pedigree chart of affected family members are recommended.
Book Your Test Today!
We have branches across Kenya, making it convenient for you to access our services. To book the GCH1 Gene Hyperphenylalaninemia BH4deficient B NGS Genetic DNA Test or for more information, please call or WhatsApp us at +254711564616.
