Short Description

NGS genetic DNA test detecets for variant and mutation detection in CRYAB gene for Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related

PreTest Information

Clinical History of Patient who is going for CRYAB Gene Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CRYAB Gene Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related

Detail Description

CRYAB Gene Myopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

CRYAB Gene Myopathy, also known as myofibrillar myopathy or fatal infantile hypertrophy, is a rare genetic disorder that affects muscle function. It is caused by mutations in the CRYAB gene, which provides instructions for making a protein called alpha-B crystallin. This protein helps to maintain the structure and function of muscle cells, and mutations in the CRYAB gene can disrupt this process, leading to muscle weakness and wasting.

Symptoms of CRYAB Gene Myopathy

Symptoms of CRYAB Gene Myopathy can vary widely depending on the age of onset and severity of the condition. In some cases, symptoms may not appear until late adolescence or early adulthood, while in others they may be present from birth. Common symptoms of CRYAB Gene Myopathy include:

• Muscle weakness and wasting
• Difficulty walking or standing
• Loss of muscle tone
• Difficulty swallowing
• Respiratory problems
• Heart problems

These symptoms can be progressive and may lead to severe disability or even death in some cases.

Diagnosis of CRYAB Gene Myopathy

Diagnosis of CRYAB Gene Myopathy typically involves a combination of clinical evaluation, genetic testing, and imaging studies. A thorough medical history and physical exam can help to identify symptoms and signs of muscle weakness and wasting, while imaging studies such as MRI or CT scans can show changes in muscle structure and function. Genetic testing, including NGS Genetic DNA testing, can confirm the presence of mutations in the CRYAB gene and help to rule out other possible causes of muscle weakness and wasting.

NGS Genetic DNA Test Cost for CRYAB Gene Myopathy

The cost of NGS Genetic DNA testing for CRYAB Gene Myopathy can vary depending on the specific testing laboratory and the type of test performed. At DNA Labs India, the cost of NGS Genetic DNA testing for CRYAB Gene Myopathy is INR 20,000. This test provides a comprehensive analysis of the CRYAB gene and can identify mutations that may be responsible for muscle weakness and wasting.

Conclusion

CRYAB Gene Myopathy is a rare genetic disorder that can cause significant disability and even death. Early diagnosis and treatment can help to manage symptoms and improve quality of life for affected individuals. NGS Genetic DNA testing can provide a comprehensive analysis of the CRYAB gene and help to confirm the presence of mutations that may be responsible for muscle weakness and wasting. If you or a loved one is experiencing symptoms of CRYAB Gene Myopathy, speak to your healthcare provider about the possibility of genetic testing to determine the underlying cause of the condition.

For more information about NGS Genetic DNA testing for CRYAB Gene Myopathy, contact DNA Labs India today.

Mutations in the CRYAB gene have been associated with a specific type of myopathy known as Myofibrillar Myopathy with Fatal Infantile Hypertrophy, also referred to as Alpha-B Crystallin-Related Myopathy. This is a rare and severe muscle disorder that affects infants and is characterized by muscle weakness, hypertrophy (enlargement), and early mortality.