Short Description

NGS genetic DNA test detecets for variant and mutation detection in C12ORF65 gene for Combined oxidative phosphorylation deficiency type 7

PreTest Information

Clinical History of Patient who is going for C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 7

Detail Description

C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 (COXPD7) is a genetic disorder that affects the mitochondria, which are the energy-producing organelles in the cells. This disorder is caused by mutations in the C12ORF65 gene, which provides instructions for making a protein that is involved in the assembly of mitochondrial respiratory chain complexes.

Symptoms of COXPD7 can vary widely, but typically include muscle weakness, developmental delay, seizures, and poor growth. The disorder can also cause a range of neurological symptoms, such as ataxia, hypotonia, and neuropathy.

Diagnosis of COXPD7 is typically done through genetic testing, specifically through Next Generation Sequencing (NGS) of the C12ORF65 gene. This test can identify mutations in the gene and help confirm a diagnosis of COXPD7. The cost of this test at DNA Labs India is INR 20000.

If you or a loved one is experiencing symptoms of COXPD7, it is important to seek medical attention and consider genetic testing. DNA Labs India offers a range of genetic tests for various disorders and conditions, and our team of experts can help guide you through the testing process and provide support and guidance along the way.

Don't wait to get the answers you need. Contact DNA Labs India today to learn more about our genetic testing services and how we can help you get the answers you need.

The C12ORF65 gene is associated with Combined Oxidative Phosphorylation Deficiency Type 7 (COXPD7), which is a rare genetic disorder that affects cellular energy production in the form of oxidative phosphorylation. This disorder leads to a variety of clinical symptoms, often involving multiple organ systems.

"NGS Genetic DNA Test" refers to Next-Generation Sequencing, a powerful technology used to analyze an individual's DNA for mutations and variations in multiple genes simultaneously. In the context of COXPD7, an NGS Genetic DNA Test for the C12ORF65 gene would involve sequencing the DNA of an individual to identify mutations or variations within the C12ORF65 gene associated with COXPD7.

COXPD7 is characterized by mitochondrial dysfunction, specifically affecting the oxidative phosphorylation process, which is crucial for generating energy within cells. The disorder can lead to a range of symptoms, including developmental delays, muscle weakness, movement disorders, seizures, and more.

A genetic test targeting the C12ORF65 gene can provide important information for diagnosis, medical management, and genetic counseling. Confirming the presence of mutations in the gene associated with COXPD7 can help explain the clinical features observed in affected individuals and guide appropriate medical care and support.

As with any genetic testing, it's important to involve a qualified genetic counselor or medical professional in the process. They can help interpret the test results, provide guidance on further evaluations, discuss inheritance patterns, and offer support for the affected individual and their family.

If you suspect that you or someone you know may have COXPD7 or any other genetic disorder, seeking medical advice and undergoing genetic testing under the guidance of healthcare professionals is recommended.