Short Description

NGS genetic DNA test detecets for variant and mutation detection in TRMT5 gene for Combined oxidative phosphorylation deficiency type 26

PreTest Information

Clinical History of Patient who is going for TRMT5 Gene Combined oxidative phosphorylation deficiency type 26 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 26

Detail Description

TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

TRMT5 gene is responsible for producing an enzyme that is involved in the process of oxidative phosphorylation. Oxidative phosphorylation is an essential process that produces energy in our cells. Any defect in this process can lead to a group of disorders called mitochondrial diseases. TRMT5 gene combined oxidative phosphorylation deficiency type 26 (COXPD26) is one such disorder.

Symptoms of TRMT5 Gene COXPD26

The symptoms of TRMT5 Gene COXPD26 can vary widely from person to person. Some of the common symptoms include:

• Weakness and fatigue
• Muscle pain and stiffness
• Poor muscle coordination
• Vision problems
• Hearing loss
• Developmental delays
• Seizures

These symptoms can appear at any age, but they usually become noticeable in early childhood.

Diagnosis of TRMT5 Gene COXPD26

TRMT5 Gene COXPD26 is a rare disorder, and it can be challenging to diagnose. A doctor may suspect the disorder based on the symptoms and family history. A genetic test is required to confirm the diagnosis. The most common genetic test used to diagnose mitochondrial disorders is Next-Generation Sequencing (NGS).

NGS Genetic DNA Test Cost INR:20000

NGS Genetic DNA Test Cost for TRMT5 Gene COXPD26 is INR:20000 in DNA Labs India. DNA Labs India is one of the leading genetic testing labs in India. They offer a wide range of genetic testing services, including NGS Genetic DNA Testing.

Conclusion

TRMT5 Gene COXPD26 is a rare mitochondrial disorder that can cause a variety of symptoms. If you or your loved one is experiencing symptoms of the disorder, it is essential to seek medical attention and get a genetic test done. NGS Genetic DNA Test Cost for TRMT5 Gene COXPD26 is INR:20000 in DNA Labs India. Early diagnosis and treatment can help manage the symptoms and improve the quality of life.