Short Description

NGS genetic DNA test detecets for variant and mutation detection in CAV3 gene for Limb-girdle muscular dystrophy, autosomal dominant type 1C

PreTest Information

Clinical History of Patient who is going for CAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C

Detail Description

CAV3 Gene Limb-girdle Muscular Dystrophy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

CAV3 gene limb-girdle muscular dystrophy (LGMD), autosomal dominant type 1C is a rare genetic disorder that affects the muscles in the limbs and torso. It is caused by a mutation in the CAV3 gene, which is responsible for producing a protein called caveolin-3. This protein is important for maintaining the structure and function of muscle cells.

Symptoms of CAV3 Gene Limb-girdle Muscular Dystrophy

The symptoms of CAV3 gene LGMD can vary widely from person to person, even within the same family. Some common symptoms include:

• Muscle weakness and wasting, especially in the shoulders, hips, and thighs
• Difficulty walking and climbing stairs
• Frequent falls
• Difficulty lifting objects or reaching overhead
• Contractures (stiffness) in the joints
• Heart abnormalities (in some cases)

The onset of symptoms can occur at any age, from childhood to adulthood. However, it typically begins in early adulthood.

Diagnosis of CAV3 Gene Limb-girdle Muscular Dystrophy

Diagnosing CAV3 gene LGMD can be challenging, as the symptoms can be similar to other types of muscular dystrophy. A diagnosis usually involves a combination of the following:

• Physical examination to assess muscle strength and function
• Family history to identify any other cases of LGMD
• Electromyography (EMG) to measure electrical activity in the muscles
• Muscle biopsy to examine the structure of muscle fibers
• Genetic testing to identify mutations in the CAV3 gene

NGS Genetic DNA Test Cost for CAV3 Gene Limb-girdle Muscular Dystrophy

Next-generation sequencing (NGS) genetic testing is a powerful tool for identifying mutations in the CAV3 gene. This test can detect small changes in the DNA sequence that may be missed by other types of genetic testing.

The cost of NGS genetic testing for CAV3 gene LGMD in India is approximately INR 20,000. This may vary depending on the specific laboratory and testing protocol used.

Conclusion

CAV3 gene LGMD is a rare genetic disorder that can cause muscle weakness and wasting in the limbs and torso. Diagnosis can be challenging, but genetic testing can help identify mutations in the CAV3 gene. NGS genetic testing is a powerful tool for detecting these mutations, and it is available at a cost of approximately INR 20,000 in India.

If you or a loved one is experiencing symptoms of LGMD, it is important to speak with a healthcare provider to receive a proper diagnosis and treatment plan.