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 |
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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 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. |