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TYMP Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome without Leukoencephalopathy Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The TYMP gene mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) without leukoencephalopathy genetic test is a specialized diagnostic procedure offered by DNA Labs UAE. This test is designed to detect mutations in the TYMP gene, which are responsible for a rare condition known as mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) without the characteristic white matter brain changes typically seen in this disorder, known as leukoencephalopathy. MNGIE is a progressive, autosomal recessive metabolic disorder characterized by a range of symptoms including gastrointestinal dysmotility, peripheral neuropathy, ptosis, and progressive external ophthalmoplegia, among others.

The absence of leukoencephalopathy in some patients can make diagnosis challenging, necessitating the use of genetic testing to confirm the presence of TYMP gene mutations. The test involves analyzing the patient’s DNA, extracted from a blood sample, to identify mutations in the TYMP gene that are indicative of MNGIE.

At DNA Labs UAE, this comprehensive genetic test is offered at a cost of 4400 AED. It is a critical tool for healthcare professionals in diagnosing MNGIE without leukoencephalopathy, allowing for appropriate management and treatment plans to be devised based on the genetic findings. The test is conducted with strict confidentiality and precision, ensuring patients receive accurate and actionable results.

Description

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.

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