Short Description

NGS genetic DNA test detecets for variant and mutation detection in ELAC2 gene for Combined oxidative phosphorylation deficiency type 17

PreTest Information

Clinical History of Patient who is going for ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 17

Detail Description

ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 NGS Genetic DNA Test

ELAC2 gene combined oxidative phosphorylation deficiency type 17 is a rare genetic disorder that affects the energy-producing system of the body. The ELAC2 gene provides instructions for making a protein that is essential for the proper functioning of mitochondria, which are the powerhouses of the cell. Mutations in the ELAC2 gene can disrupt the energy production process, leading to a range of symptoms and health problems.

Symptoms of ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17

The symptoms of ELAC2 gene combined oxidative phosphorylation deficiency type 17 can vary widely depending on the severity of the mutation and the age of onset. Some of the most common symptoms of this genetic disorder include:

• Weakness and fatigue
• Developmental delays and intellectual disability
• Abnormal muscle tone and involuntary movements
• Seizures and other neurological problems
• Heart and liver problems
• Vision and hearing loss

Diagnosis of ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17

ELAC2 gene combined oxidative phosphorylation deficiency type 17 can be diagnosed using a variety of genetic tests, including Next-Generation Sequencing (NGS) DNA testing. NGS testing is a powerful tool that can identify mutations in multiple genes at once, making it an effective way to diagnose rare genetic disorders like ELAC2 gene combined oxidative phosphorylation deficiency type 17.

Cost of ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 NGS Genetic DNA Test

The cost of ELAC2 gene combined oxidative phosphorylation deficiency type 17 NGS genetic DNA testing in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and the type of test being performed. It is important to speak with a healthcare provider or genetic counselor to determine the most appropriate testing options and associated costs.

Conclusion

ELAC2 gene combined oxidative phosphorylation deficiency type 17 is a rare genetic disorder that can cause a range of symptoms and health problems. NGS DNA testing is an effective way to diagnose this condition and can help healthcare providers develop personalized treatment plans for affected individuals. If you or a loved one is experiencing symptoms of ELAC2 gene combined oxidative phosphorylation deficiency type 17, speak with a healthcare provider or genetic counselor to determine the most appropriate testing and treatment options.