Short Description

NGS genetic DNA test detecets for variant and mutation detection in COQ9 gene for Coenzyme Q10 deficiency type 5

PreTest Information

Clinical History of Patient who is going for COQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COQ9 Gene Coenzyme Q10 deficiency type 5

Detail Description

COQ9 Gene Coenzyme Q10 Deficiency Type 5 NGS Genetic DNA Test

COQ9 Gene Coenzyme Q10 deficiency type 5 is a rare genetic disorder that affects the body's ability to produce Coenzyme Q10, a vital molecule for energy production in the body. The symptoms of this disorder can vary widely, but they often include muscle weakness, fatigue, and developmental delays.

Symptoms

The symptoms of COQ9 Gene Coenzyme Q10 deficiency type 5 can vary widely from person to person. However, some of the most common symptoms include:

• Muscle weakness
• Developmental delays
• Seizures
• Intellectual disability
• Ataxia (difficulty with coordination and balance)
• Fatigue
• Abnormal eye movements

Diagnosis

Diagnosis of COQ9 Gene Coenzyme Q10 deficiency type 5 can be challenging, as the symptoms can be similar to those of other conditions. However, a genetic test can be used to confirm the diagnosis. This test involves analyzing the patient's DNA for mutations in the COQ9 gene.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a powerful tool for genetic testing. This technology allows for the rapid analysis of large amounts of DNA, making it an ideal tool for diagnosing rare genetic disorders like COQ9 Gene Coenzyme Q10 deficiency type 5.

Cost

The cost of the COQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic DNA Test in India is around INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

COQ9 Gene Coenzyme Q10 deficiency type 5 is a rare genetic disorder that can cause a range of symptoms, including muscle weakness, fatigue, and developmental delays. If you or a loved one is experiencing these symptoms, it's important to speak to a healthcare professional. A genetic test, such as the COQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic DNA Test, can help confirm a diagnosis and guide treatment options.

At DNA Labs India, we offer a range of genetic testing services, including the COQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic DNA Test. Our team of experts is dedicated to providing accurate and reliable results to help our patients make informed decisions about their health. Contact us today to learn more about our services.