GCH1 Gene Hyperphenylalaninemia BH4-deficient B NGS Genetic DNA Test
Introduction
The GCH1 Gene Hyperphenylalaninemia BH4-deficient B NGS Genetic DNA Test is an advanced diagnostic test that plays a vital role in identifying genetic disorders related to neurological conditions. This test is particularly significant for individuals with a family history of hyperphenylalaninemia, a condition that can lead to severe cognitive and developmental issues if not detected early.
What the Test Measures
This test employs Next Generation Sequencing (NGS) technology to detect mutations in the GCH1 gene, which is responsible for producing an enzyme crucial for the metabolism of phenylalanine. Elevated levels of phenylalanine can lead to a range of neurological disorders.
Who Should Consider This Test?
Individuals who should consider this test include:
- Those with symptoms such as developmental delays, intellectual disabilities, or neurological issues.
- Patients with a family history of GCH1 gene mutations or hyperphenylalaninemia.
- Individuals experiencing unexplained neurological symptoms.
Benefits of Taking the Test
- Early identification of genetic predispositions, allowing for timely intervention and management.
- Informed family planning through genetic counseling.
- Understanding personal health risks and making informed lifestyle choices.
Understanding Your Results
Results from the GCH1 Gene Hyperphenylalaninemia BH4-deficient B NGS Genetic DNA Test will help you and your healthcare provider understand your genetic makeup. It is essential to discuss the results with a genetic counselor or neurologist to get a comprehensive understanding of the implications and next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GCH1 Gene Hyperphenylalaninemia BH4-deficient B NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the GCH1 Gene Hyperphenylalaninemia BH4-deficient B NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
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 is required, along with a genetic counseling session to draw a pedigree chart of family members affected by GCH1 Gene Hyperphenylalaninemia.
Take control of your health today by understanding your genetic risks. Book your test now!
