TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Genetic Test
Are you or a loved one experiencing symptoms such as weight loss, diarrhea, vomiting, and neurological issues? It may be worth considering the TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Genetic Test offered by DNA Labs UAE.
Test Details
The TYMP gene is responsible for encoding the enzyme thymidine phosphorylase, which plays a crucial role in the breakdown of thymidine, a component of DNA. Mutations in the TYMP gene can lead to a condition known as mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE).
MNGIE is a rare autosomal recessive disorder characterized by progressive gastrointestinal dysmotility and neurological symptoms. Patients with MNGIE typically experience weight loss, diarrhea, vomiting, and malabsorption due to the dysfunction of the gastrointestinal system. Neurological symptoms may include peripheral neuropathy, muscle weakness, and progressive loss of motor skills. The absence of leukoencephalopathy, which refers to the degeneration of white matter in the brain, is a specific feature of MNGIE. This distinguishes it from other mitochondrial disorders that may also affect the gastrointestinal system and cause neurologic symptoms.
Next-generation sequencing (NGS) genetic testing is a method used to analyze multiple genes simultaneously to identify mutations or variants that may be responsible for a particular condition. In the case of MNGIE, NGS genetic testing can be used to identify mutations in the TYMP gene.
Test Components and Price
- Test Name: TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
Sample Condition and Report Delivery
The sample condition required for this test is either blood or extracted DNA. Alternatively, one drop of blood can be collected on an FTA Card. The report delivery typically takes 3 to 4 weeks.
Referring Doctor and Test Department
If you are experiencing symptoms related to TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy, it is recommended to consult with a neurologist. This test falls under the Genetics department.
Pre Test Information
Before undergoing the TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by this condition.
Treatment Options
While treatment options for MNGIE are currently limited, ongoing research is exploring potential therapeutic approaches such as enzyme replacement therapy and stem cell transplantation. Genetic testing can help confirm a diagnosis and guide appropriate management and treatment options.
Don’t let the symptoms of TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy go undiagnosed. Consider the TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Genetic Test offered by DNA Labs UAE to gain a better understanding of your condition and explore potential treatment options.
| Test Name | TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Genetic Test |
|---|---|
| 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 TYMP 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 TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy |
| Test Details |
The TYMP gene is responsible for encoding the enzyme thymidine phosphorylase, which plays a crucial role in the breakdown of thymidine, a component of DNA. Mutations in the TYMP gene can lead to a condition known as mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). MNGIE is a rare autosomal recessive disorder characterized by progressive gastrointestinal dysmotility and neurological symptoms. Patients with MNGIE typically experience weight loss, diarrhea, vomiting, and malabsorption due to the dysfunction of the gastrointestinal system. Neurological symptoms may include peripheral neuropathy, muscle weakness, and progressive loss of motor skills. The absence of leukoencephalopathy, which refers to the degeneration of white matter in the brain, is a specific feature of MNGIE. This distinguishes it from other mitochondrial disorders that may also affect the gastrointestinal system and cause neurologic symptoms. Next-generation sequencing (NGS) genetic testing is a method used to analyze multiple genes simultaneously to identify mutations or variants that may be responsible for a particular condition. In the case of MNGIE, NGS genetic testing can be used to identify mutations in the TYMP gene. Genetic testing for MNGIE can help confirm a diagnosis and guide appropriate management and treatment options. Treatment options for MNGIE are currently limited, but research is ongoing, and potential therapeutic approaches include enzyme replacement therapy and stem cell transplantation. |
