Short Description

NGS genetic DNA test detecets for variant and mutation detection in CRYAB gene for Myopathy, desmin related, associated with mutation in the CRYAB gene

PreTest Information

Clinical History of Patient who is going for CRYAB Gene Myopathy, desmin related, associated with mutation in the CRYAB gene NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CRYAB Gene Myopathy, desmin related, associated with mutation in the CRYAB gene

Detail Description

CRYAB Gene Myopathy – Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

CryAB gene myopathy is a rare genetic disorder that is associated with mutations in the CRYAB gene. This gene encodes for the protein alpha-B crystallin, which is involved in the proper functioning of the muscles. When mutations occur in this gene, it can lead to muscle weakness and other related symptoms. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for CRYAB gene myopathy in India.

Symptoms of CRYAB Gene Myopathy

The symptoms of CRYAB gene myopathy can vary depending on the severity and type of the mutation. Some common symptoms include:

• Muscle weakness in the limbs and trunk
• Difficulty with walking and standing
• Fatigue and tiredness
• Difficulty with swallowing and breathing
• Abnormal curvature of the spine

It is important to note that these symptoms can also be present in other neuromuscular disorders, so it is crucial to undergo proper diagnostic testing.

Diagnosis of CRYAB Gene Myopathy

Diagnosing CRYAB gene myopathy requires a combination of clinical evaluation, genetic testing, and imaging studies. A neurologist or a geneticist will typically perform a physical examination to assess muscle strength and function. They may also order imaging tests, such as an MRI or CT scan, to evaluate the muscles and surrounding tissues.

The most definitive method of diagnosis is genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can identify mutations in the CRYAB gene. NGS is a highly sensitive and specific test that can detect even small mutations that may be missed by other types of genetic testing.

NGS Genetic DNA Test Cost for CRYAB Gene Myopathy in India

The cost of NGS genetic DNA testing for CRYAB gene myopathy in India can vary depending on the testing facility and the specific type of test. On average, the cost of NGS genetic DNA testing for CRYAB gene myopathy in India can range from INR 20,000 to INR 30,000.

Conclusion

CryAB gene myopathy is a rare genetic disorder that can cause muscle weakness and other related symptoms. Proper diagnosis is crucial for effective management and treatment of the disorder. NGS genetic DNA testing is a highly sensitive and specific method of identifying mutations in the CRYAB gene. The cost of NGS genetic DNA testing for CRYAB gene myopathy in India can vary depending on the testing facility and the specific type of test.

If you suspect that you or a loved one may have CRYAB gene myopathy, it is important to consult with a medical professional who can provide proper evaluation and diagnostic testing.

Mutations in the CRYAB gene have been associated with a specific type of myopathy known as Desmin-Related Myopathy (DRM), which is characterized by muscle weakness and degeneration. CRYAB (Alpha B-Crystallin) is a gene that encodes a protein called alpha-crystallin B, which is part of the crystallin family of proteins found in various tissues, including muscle cells.