ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic DNA Test
Introduction to the ETHE1 Gene Test
The ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic DNA Test is an advanced diagnostic tool that plays a significant role in understanding the genetic basis of ethylmalonic encephalopathy, a rare neurological disorder. This test utilizes Next-Generation Sequencing (NGS) technology to analyze the ETHE1 gene, which is critical for diagnosing this condition and guiding further management.
What the Test Measures
This genetic test specifically detects mutations in the ETHE1 gene, which are known to be associated with ethylmalonic encephalopathy. By identifying these mutations, healthcare providers can better understand the underlying causes of neurological symptoms and tailor treatment plans accordingly.
Who Should Consider This Test
Individuals who exhibit symptoms of neurological disorders, particularly those presenting with developmental delays, seizures, and metabolic disturbances, should consider this test. Additionally, family members of patients diagnosed with ethylmalonic encephalopathy may benefit from genetic testing to assess their own risk and guide family planning decisions.
Benefits of Taking the Test
- Accurate identification of genetic mutations associated with ethylmalonic encephalopathy.
- Informed decision-making regarding treatment options and family planning.
- Access to genetic counseling for better understanding and management of the condition.
- Potential for early intervention, which can significantly improve quality of life.
Understanding Your Results
Results from the ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic DNA Test will be provided in a detailed report. It is important to discuss these results with a healthcare provider or genetic counselor, who can help interpret the findings and their implications for health and family members.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To take the ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic DNA Test, please ensure you have a clinical history ready and consider a genetic counseling session to assist in drawing a pedigree chart of family members affected. For more information or to book your test, contact us at +2348077798758 or visit our website.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: Clinical History of Patient who is going for ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic DNA Test, A Genetic Counselling session to draw a pedigree chart of family members affected with ETHE1 Gene Ethylmalonic Encephalopathy.
Don’t wait to gain insights into your health; book the ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic DNA Test today!
