PEX6 Gene Zellweger Syndrome NGS Genetic DNA Test
Introduction
The PEX6 Gene Zellweger Syndrome NGS Genetic DNA Test is a state-of-the-art diagnostic tool that leverages Next Generation Sequencing (NGS) technology to identify mutations in the PEX6 gene, which are responsible for Zellweger syndrome. This syndrome is a severe neurological disorder characterized by a range of symptoms including developmental delays, seizures, and liver dysfunction. Early diagnosis through genetic testing is crucial for effective management and support for affected individuals and their families.
What the Test Measures
This genetic test specifically measures the presence of mutations in the PEX6 gene. By analyzing the DNA sample, the test can confirm or rule out the diagnosis of Zellweger syndrome, allowing for timely intervention.
Who Should Consider This Test
Individuals who should consider the PEX6 Gene Zellweger Syndrome NGS Genetic DNA Test include:
- Patients exhibiting symptoms of Zellweger syndrome such as developmental delays, hypotonia, and seizures.
- Families with a history of neurological disorders, particularly those with known cases of Zellweger syndrome.
- Individuals with risk factors for genetic disorders, especially those related to metabolic or neurological conditions.
Benefits of Taking the Test
The benefits of undergoing the PEX6 Gene Zellweger Syndrome NGS Genetic DNA Test include:
- Accurate diagnosis of Zellweger syndrome, which can guide treatment options.
- Informed decision-making for families regarding future pregnancies.
- Access to genetic counseling and support services for affected individuals and their families.
Understanding Your Results
After the test is completed, results will be interpreted by a qualified geneticist. A positive result indicates the presence of a mutation in the PEX6 gene, confirming a diagnosis of Zellweger syndrome, while a negative result may suggest that the symptoms are due to another cause. It is important to discuss results with a healthcare provider to understand their implications.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PEX6 Gene Zellweger Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the PEX6 Gene Zellweger Syndrome NGS Genetic DNA Test, please contact us at DNA Labs Nigeria. You can reach us via phone at +2348077798758 or visit our website to schedule your appointment. Early diagnosis can make a significant difference in managing neurological disorders.
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. It is essential to provide a clinical history of the patient and consider a genetic counseling session to draw a pedigree chart of family members affected by Zellweger syndrome.
Don’t wait! Book your test today and take the first step towards understanding your health.
