Short Description

NGS genetic DNA test detecets for variant and mutation detection in COX10 gene for Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency

PreTest 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

Detail Description

COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy Due to Cytochrome C Oxidase Deficiency NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

COX10 gene encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency is a rare genetic disorder. It is caused by mutations in the COX10 gene, which provides instructions for making an enzyme called cytochrome c oxidase. This enzyme is essential for the energy production within cells.

The symptoms of this disorder can vary widely from person to person. Some individuals may have mild symptoms, while others may experience severe symptoms. The symptoms can include developmental delay, low muscle tone, weakness, seizures, and kidney problems.

Diagnosing COX10 gene encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency can be challenging. The diagnosis is usually based on a combination of clinical features, laboratory tests, and genetic testing.

The genetic testing for this disorder involves a Next-Generation Sequencing (NGS) Genetic DNA test. This test identifies mutations in the COX10 gene that are responsible for the disorder. The cost of the NGS Genetic DNA test for COX10 gene encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency is INR 20,000.

It is important to note that early diagnosis of this disorder can help in managing the symptoms and improving the quality of life for affected individuals. Therefore, if you or someone you know is experiencing symptoms of COX10 gene encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency, it is recommended to consult a healthcare professional for further evaluation and genetic testing.