Short Description

NGS genetic DNA test detecets for variant and mutation detection in CAPN3 gene for Limb-girdle muscular dystrophy, autosomal recessive type 2A

PreTest Information

Clinical History of Patient who is going for CAPN3 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CAPN3 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2A

Detail Description

DNA Labs India: CAPN3 Gene Limb-girdle Muscular Dystrophy, Autosomal Recessive Type 2A NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders that affect the muscles in the hip and shoulder areas. One of the subtypes of LGMD is autosomal recessive type 2A (LGMD2A), which is caused by mutations in the CAPN3 gene. DNA Labs India offers an NGS genetic DNA test for LGMD2A at a cost of INR 20,000.

Symptoms of LGMD2A

The symptoms of LGMD2A usually start in childhood or early adulthood and progress slowly over time. Some of the common symptoms include:

• Muscle weakness and wasting in the hip and shoulder areas
• Difficulty walking or climbing stairs
• Frequent falls
• Difficulty lifting objects
• Trouble raising arms above the head
• Difficulty with activities that require fine motor skills, such as writing or buttoning clothes
• Contractures (stiffness in joints)
• Cardiomyopathy (weakening of the heart muscle)

Diagnosis of LGMD2A

Diagnosis of LGMD2A involves a combination of clinical examination, genetic testing, and imaging studies. A doctor will evaluate the patient's symptoms and medical history, perform a physical examination, and order tests such as:

• Blood tests to check for elevated levels of creatine kinase (an enzyme released when muscles are damaged)
• Muscle biopsy to examine muscle tissue under a microscope
• Imaging studies such as MRI or CT scan to visualize muscle and tissue damage
• Genetic testing to identify mutations in the CAPN3 gene

NGS Genetic DNA Test for LGMD2A

DNA Labs India offers an NGS genetic DNA test for LGMD2A that analyzes the entire coding region of the CAPN3 gene. This test is highly accurate and can detect even small mutations that may be missed by other genetic tests. The cost of the test is INR 20,000.

Benefits of NGS Genetic DNA Testing

NGS genetic DNA testing offers several benefits over traditional genetic testing methods:

• High accuracy and sensitivity
• Faster turnaround time for results
• Ability to detect multiple mutations simultaneously
• Lower cost compared to other genetic testing methods

Conclusion

If you or a loved one is experiencing symptoms of LGMD2A, it is important to seek medical attention and get a proper diagnosis. DNA Labs India offers an NGS genetic DNA test for LGMD2A at a cost of INR 20,000. This test is highly accurate and can provide valuable information about the genetic mutations that are causing the disease. Contact DNA Labs India today to schedule an appointment for LGMD2A genetic testing.