POLG Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy Genetic Test
Are you experiencing symptoms such as severe weight loss, difficulty swallowing, diarrhea, abdominal pain, weakness, numbness, and tingling in the extremities? These symptoms could be signs of a rare genetic disorder known as Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE) without Leukoencephalopathy. At DNA Labs UAE, we offer a comprehensive genetic test to diagnose this condition.
Test Details
The POLG gene, also known as the polymerase gamma gene, is responsible for encoding an enzyme called DNA polymerase gamma. This enzyme plays a crucial role in replicating and repairing mitochondrial DNA (mtDNA). Mutations in the POLG gene can lead to a group of disorders known as Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE).
MNGIE is a rare autosomal recessive disorder that affects multiple organ systems. The symptoms typically appear in adolescence or early adulthood and progressively worsen over time. While MNGIE is typically associated with leukoencephalopathy, there are rare cases where patients have MNGIE without leukoencephalopathy.
Common Symptoms of MNGIE Include:
- Gastrointestinal symptoms: Patients may experience severe weight loss, difficulty swallowing, diarrhea, abdominal pain, and malabsorption.
- Neurological symptoms: Patients may develop peripheral neuropathy, which causes weakness, numbness, and tingling in the extremities. Other neurological symptoms may include progressive muscle weakness, ataxia (lack of muscle coordination), and ophthalmoplegia (paralysis of eye muscles).
- Mitochondrial dysfunction: MNGIE is a mitochondrial disorder, so patients may also exhibit signs of mitochondrial dysfunction, such as lactic acidosis (build-up of lactic acid in the blood), exercise intolerance, and decreased energy production.
Genetic Testing for MNGIE
To diagnose MNGIE, a genetic test called Next-Generation Sequencing (NGS) can be performed. NGS is a high-throughput sequencing method that can analyze multiple genes simultaneously, including the POLG gene. This test can identify mutations in the POLG gene that are associated with MNGIE.
Our POLG Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy Genetic Test is available at a cost of AED 4400.0. The test can be conducted using a blood sample, extracted DNA, or even just one drop of blood on an FTA card. The report will be delivered within 3 to 4 weeks.
Test Type and Doctor
This test falls under the category of Neurological Disorders and is conducted by our experienced Neurologist. The test is carried out in our Genetics department, ensuring accurate and reliable results.
Pre-Test Information
Before undergoing the POLG Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy Genetic Test, it is recommended to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the condition. This will help in understanding the inheritance pattern and the likelihood of other family members being affected.
Importance of Genetic Testing
Genetic testing for MNGIE can help confirm the diagnosis, provide information about disease progression and prognosis, and guide treatment decisions. While there is currently no cure for MNGIE, management involves supportive care and symptomatic treatment to improve the quality of life.
It is crucial to consult with a genetic counselor or healthcare professional to discuss the appropriateness and implications of genetic testing for MNGIE. They can provide more detailed information about the test, its limitations, and potential implications for the individual and their family.
At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Our POLG Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy Genetic Test can help in the diagnosis and management of this rare genetic disorder. Contact us today to schedule an appointment.
Test Name | POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Genetic Test |
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Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy |
Test Details |
POLG gene, or polymerase gamma gene, is responsible for encoding an enzyme called DNA polymerase gamma. This enzyme is involved in replicating and repairing mitochondrial DNA (mtDNA). Mutations in the POLG gene can lead to a group of disorders known as mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). MNGIE is a rare autosomal recessive disorder characterized by a wide range of symptoms affecting multiple organ systems. These symptoms typically appear in adolescence or early adulthood and progressively worsen over time. Some common features of MNGIE include: 1. Gastrointestinal symptoms: Patients may experience severe weight loss, difficulty swallowing, diarrhea, abdominal pain, and malabsorption. 2. Neurological symptoms: Patients may develop peripheral neuropathy, which causes weakness, numbness, and tingling in the extremities. Other neurological symptoms may include progressive muscle weakness, ataxia (lack of muscle coordination), and ophthalmoplegia (paralysis of eye muscles). 3. Mitochondrial dysfunction: MNGIE is a mitochondrial disorder, so patients may also exhibit signs of mitochondrial dysfunction, such as lactic acidosis (build-up of lactic acid in the blood), exercise intolerance, and decreased energy production. While MNGIE is typically associated with leukoencephalopathy, which is the degeneration of white matter in the brain, there are rare cases where patients have MNGIE without leukoencephalopathy. To diagnose MNGIE, a genetic test called next-generation sequencing (NGS) can be performed. NGS is a high-throughput sequencing method that can analyze multiple genes simultaneously, including the POLG gene. This test can identify mutations in the POLG gene that are associated with MNGIE. Genetic testing for MNGIE can help confirm the diagnosis, provide information about disease progression and prognosis, and guide treatment decisions. While there is currently no cure for MNGIE, management involves supportive care and symptomatic treatment to improve quality of life. It is important to consult with a genetic counselor or healthcare professional to discuss the appropriateness and implications of genetic testing for MNGIE. They can provide more detailed information about the test, its limitations, and potential implications for the individual and their family. |