Short Description

NGS genetic DNA test detecets for variant and mutation detection in B3GALNT2 gene for Congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

PreTest Information

Clinical History of Patient who is going for B3GALNT2 Gene Congenital muscular dystrophy and hypoglycosylation of α-dystroglycan NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with B3GALNT2 Gene Congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

Detail Description

B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of α-dystroglycan NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Congenital muscular dystrophy is a genetic disorder that affects muscle development and function. It is caused by mutations in genes that are responsible for producing proteins necessary for muscle function. One such gene is the B3GALNT2 gene. Mutations in this gene lead to hypoglycosylation of α-dystroglycan, a protein that plays a crucial role in maintaining the structure and function of muscle cells.

The B3GALNT2 gene is responsible for producing an enzyme that adds sugar molecules to α-dystroglycan. These sugar molecules are essential for the protein to function correctly. When mutations occur in the B3GALNT2 gene, the enzyme may not be produced, or it may not function correctly, leading to hypoglycosylation of α-dystroglycan.

Symptoms of B3GALNT2 Gene Congenital Muscular Dystrophy

The symptoms of B3GALNT2 gene congenital muscular dystrophy can vary from person to person, but some common signs and symptoms include:

• Weakness in the muscles
• Poor muscle tone
• Muscle wasting
• Difficulty with movement
• Difficulty with breathing
• Speech difficulties
• Intellectual disability
• Seizures

These symptoms can become more severe over time, and some people may require assistance with activities of daily living or the use of a wheelchair.

Diagnosis of B3GALNT2 Gene Congenital Muscular Dystrophy

The diagnosis of B3GALNT2 gene congenital muscular dystrophy typically involves a combination of physical examination, medical history, and genetic testing. The physical examination may include an assessment of muscle strength, tone, and reflexes. The medical history may include questions about the onset of symptoms and family history of the disorder. Genetic testing can confirm the presence of mutations in the B3GALNT2 gene.

NGS Genetic DNA Test for B3GALNT2 Gene Congenital Muscular Dystrophy

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool that can accurately detect mutations in genes associated with congenital muscular dystrophy, including the B3GALNT2 gene. This test can help confirm a diagnosis and provide information about the specific genetic mutation present.

The cost of NGS genetic DNA testing for B3GALNT2 gene congenital muscular dystrophy is INR 20000. This test is typically covered by insurance, but it is essential to check with your insurance provider to confirm coverage.

Conclusion

B3GALNT2 gene congenital muscular dystrophy is a rare genetic disorder that can cause severe muscle weakness and other symptoms. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for people with this disorder. NGS genetic DNA testing can accurately detect mutations in the B3GALNT2 gene and confirm a diagnosis. If you or a loved one is experiencing symptoms of this disorder, it is essential to seek medical attention and speak with a genetic counselor about testing options.

For more information on DNA Labs India's NGS genetic DNA testing services, please visit our website or contact us today.