Short Description

NGS genetic DNA test detecets for variant and mutation detection in CAV3 gene for Creatine phosphokinase, elevated serum

PreTest Information

Clinical History of Patient who is going for CAV3 Gene Creatine phosphokinase, elevated serum NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CAV3 Gene Creatine phosphokinase, elevated serum

Detail Description

CAV3 Gene Creatine Phosphokinase: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

CAV3 gene creatine phosphokinase is a genetic disorder that affects the muscles. It is caused by mutations in the CAV3 gene, which provides instructions for making a protein that is important for muscle function. When this protein is not produced properly, it can lead to muscle weakness and damage.

Symptoms of CAV3 Gene Creatine Phosphokinase

The symptoms of CAV3 gene creatine phosphokinase can vary depending on the severity of the condition. Some of the common symptoms include:

• Muscle weakness
• Muscle pain
• Elevated levels of creatine phosphokinase in the blood
• Difficulty walking
• Difficulty breathing

Diagnosis of CAV3 Gene Creatine Phosphokinase

Diagnosis of CAV3 gene creatine phosphokinase can be done through a variety of tests, including:

• Physical examination
• Blood tests to measure creatine phosphokinase levels
• Muscle biopsy to look for abnormalities
• Genetic testing to look for mutations in the CAV3 gene

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA test for CAV3 gene creatine phosphokinase is INR 20,000 in DNA Labs India. The test involves sequencing the CAV3 gene to look for mutations that may be causing the condition.

Conclusion

CAV3 gene creatine phosphokinase is a genetic disorder that affects the muscles. It can cause muscle weakness, pain, and elevated levels of creatine phosphokinase in the blood. Diagnosis can be done through physical examination, blood tests, muscle biopsy, and genetic testing. NGS genetic DNA test for CAV3 gene creatine phosphokinase costs INR 20,000 in DNA Labs India.

The CAV3 gene is associated with a condition known as "Creatine Phosphokinase, Elevated Serum" (CPK elevation), which is characterized by higher levels of creatine phosphokinase (CPK or CK) in the blood. CPK is an enzyme found in various tissues, including muscles and the heart, and its levels can rise in response to muscle damage or injury.