Short Description

NGS genetic DNA test detecets for variant and mutation detection in ISCU gene for Myopathy with lactic acidosis hereditary

PreTest Information

Clinical History of Patient who is going for ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic DNA Test gene ISCU

Detail Description

ISCU Gene Myopathy with Lactic Acidosis Hereditary NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

ISCU Gene Myopathy with Lactic Acidosis Hereditary (IMLH) is a rare genetic disorder that affects the muscles and causes lactic acidosis. It is caused by mutations in the ISCU gene, which provides instructions for making a protein that is essential for the function of mitochondria.

Symptoms

The symptoms of IMLH can vary widely, even among people with the same mutation. Some common symptoms include:

• Muscle weakness
• Exercise intolerance
• Developmental delay
• Speech difficulties
• Intellectual disability
• Seizures
• Lactic acidosis

Diagnosis

IMLH is diagnosed through genetic testing, which looks for mutations in the ISCU gene. Other tests may also be used to confirm the diagnosis, such as muscle biopsies or blood tests to measure lactic acid levels.

NGS Genetic DNA Test

The most common method of genetic testing for IMLH is Next-Generation Sequencing (NGS), which is a type of DNA sequencing technology that can rapidly and accurately analyze the entire ISCU gene. The cost of this test is INR 20,000, and it is available at DNA Labs India.

Conclusion

If you or someone you know is experiencing symptoms of IMLH, it is important to speak with a healthcare professional. A genetic test can help confirm the diagnosis and provide valuable information for treatment and management of the condition. DNA Labs India offers affordable NGS genetic DNA testing for IMLH and other genetic disorders.