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COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency Genetic Test Cost

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

-21%

The “COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy due to Cytochrome c Oxidase Deficiency Genetic Test” is a specialized diagnostic assessment conducted to identify mutations in the COX10 gene. These mutations are associated with a rare genetic condition that affects mitochondrial function, leading to symptoms such as encephalopathy, a condition affecting the brain, and proximal renal tubulopathy, a disorder impacting the kidney’s ability to reabsorb essential substances. Cytochrome c oxidase is a crucial enzyme for the mitochondrial respiratory chain, and its deficiency can result in a broad spectrum of clinical manifestations, including muscle weakness, lactic acidosis, and neurological deficits.

This test is crucial for individuals presenting symptoms suggestive of the disorder, as early diagnosis can guide treatment options and management strategies to improve quality of life. The test involves analyzing the patient’s DNA to look for specific mutations in the COX10 gene that are known to cause the disorder. Conducted at DNA Labs UAE, a reputable facility known for its advanced genetic testing services, the cost of the test is set at 4400 AED. DNA Labs UAE employs state-of-the-art technology and adheres to strict quality control measures to ensure accurate and reliable results, providing essential information for the diagnosis, treatment, and management of patients affected by this rare condition.

Description

COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy Genetic Test

Are you looking for a genetic test to diagnose COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy due to Cytochrome C Oxidase Deficiency? DNA Labs UAE offers a comprehensive genetic test that can provide accurate results.

Test Details

The COX10 gene is responsible for encoding an enzyme involved in the assembly of cytochrome c oxidase, a crucial component of the mitochondrial respiratory chain. Mutations in this gene can lead to a rare genetic disorder called encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency.

This disorder is characterized by a wide range of symptoms, including developmental delay, muscle weakness, seizures, and kidney dysfunction. The severity and onset of symptoms can vary greatly among affected individuals, even within the same family.

Our genetic test, which utilizes Next-Generation Sequencing (NGS) technology, can identify mutations in the COX10 gene. This allows for a definitive diagnosis of the disorder, enabling appropriate treatment and management strategies to be implemented.

Test Components and Price

The COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy Genetic Test costs AED 4400.0. The test can be performed using blood samples, extracted DNA, or even one drop of blood on an FTA card.

Test Method

Our laboratory utilizes NGS technology to conduct the COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy Genetic Test. This advanced method allows for high-throughput sequencing, providing accurate and reliable results.

Test Type and Doctor

The COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy Genetic Test falls under the category of Neurological Disorders. It is recommended to consult with a Neurologist for this test.

Test Department and Pre-Test Information

The COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy Genetic Test is performed in our Genetics department. Before undergoing the test, it is important to provide a clinical history of the patient. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected by the disorder.

Report Delivery

The test report will be delivered within 3 to 4 weeks from the date of sample submission.

Conclusion

The COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing this rare genetic disorder. By identifying mutations in the COX10 gene, healthcare professionals can provide appropriate treatment and management strategies. Additionally, this information is crucial for family planning and genetic counseling.

Test Name	COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency 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 COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency
Test Details	The COX10 gene encodes for an enzyme involved in the assembly of cytochrome c oxidase, a key component of the mitochondrial respiratory chain. Mutations in this gene can lead to a rare genetic disorder known as encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency. This disorder is characterized by a wide range of symptoms, including developmental delay, muscle weakness, seizures, and kidney dysfunction. The severity and onset of symptoms can vary widely between affected individuals, even within the same family. NGS genetic testing can be used to identify mutations in the COX10 gene, allowing for a definitive diagnosis of this disorder. This information can be used to guide treatment and management of the condition, as well as to provide important information for family planning and genetic counseling.

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