Pex5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test
Introduction to the Test
The Pex5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test is a specialized genetic test that plays a crucial role in diagnosing peroxisome biogenesis disorders. These disorders can lead to severe neurological issues and developmental problems. By identifying mutations in the PEX5 gene, this test helps in confirming a diagnosis, guiding treatment options, and providing valuable information for family planning.
What the Test Measures
This test detects mutations in the PEX5 gene, which is essential for the proper functioning of peroxisomes in the body. Peroxisomes are organelles that play a vital role in lipid metabolism and the detoxification of harmful substances. Abnormalities in this gene can lead to a range of neurological disorders.
Who Should Consider This Test?
Individuals with the following symptoms or risk factors should consider the Pex5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test:
- Neurological symptoms such as developmental delays, seizures, or hypotonia.
- A family history of peroxisome biogenesis disorders.
- Symptoms consistent with neurological disorders that have no clear diagnosis.
Benefits of Taking the Test
Taking the Pex5 Gene test offers several benefits:
- Accurate diagnosis of peroxisome biogenesis disorders.
- Informed decision-making regarding treatment and management.
- Guidance for family planning and genetic counseling.
- Access to specialized care and support services.
Understanding Your Results
Results from the Pex5 Gene test will provide insights into whether a mutation is present. A positive result indicates the presence of a mutation associated with the disorder, while a negative result suggests that no mutations were detected. It is essential to discuss your results with a healthcare professional to understand their implications fully.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Pex5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches and Booking
We have branches across major cities in Kenya to make it easy for you to access our services. Additionally, we offer home sample collection services for your convenience. To book the Pex5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Turnaround time for results is approximately 3 to 4 weeks. Please ensure that you bring your clinical history and consider a genetic counseling session to draw a pedigree chart of family members affected by this disorder.
