PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test
Introduction to the Test
The PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the PEX12 gene, which are responsible for Zellweger syndrome. This condition is a severe neurological disorder that affects various bodily systems, leading to significant health challenges. Early diagnosis through genetic testing is vital for effective management and treatment options.
What the Test Measures
This test specifically detects mutations in the PEX12 gene using Next Generation Sequencing (NGS) technology. By analyzing the genetic material, healthcare providers can determine the presence of pathogenic variants that contribute to the development of Zellweger syndrome.
Who Should Consider This Test
Individuals who may benefit from the PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test include:
- Patients displaying symptoms of Zellweger syndrome, such as developmental delays, vision impairment, and liver dysfunction.
- Individuals with a family history of neurological disorders.
- Those with a clinical diagnosis of a related condition who wish to confirm the genetic basis.
Benefits of Taking the Test
Undergoing the PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test offers numerous benefits, including:
- Accurate identification of genetic mutations, aiding in diagnosis.
- Informing treatment and management strategies for affected individuals.
- Providing valuable information for family planning and genetic counseling.
- Enhancing understanding of the disease for better patient care.
Understanding Your Results
Results from the PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test will be provided in a detailed report. Healthcare professionals will assist in interpreting the findings, explaining the implications of any identified mutations, and discussing potential next steps for management and care.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our dedicated team is ready to assist you with the booking process and provide any additional information you may need.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The test requires a sample type of blood or extracted DNA, or one drop of blood on an FTA card. Prior to testing, a genetic counseling session is recommended to draw a pedigree chart of family members affected by PEX12 Gene Zellweger syndrome.
For further assistance and inquiries, feel free to reach out to our team of specialists, including neurologists and geneticists, who are committed to providing you with the best care and support.
