Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMGNT1 gene for Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3

PreTest Information

Clinical History of Patient who is going for POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3

Detail Description

POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C3 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Muscular dystrophy is a genetic disorder that leads to progressive muscle weakness and damage. It is caused by mutations in genes that are involved in the structure and function of muscle cells. There are many types of muscular dystrophy, each caused by mutations in different genes. One of these genes is the POMGNT1 gene, which is associated with limb-girdle muscular dystrophy-dystroglycanopathy type C3.

What is POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C3?

POMGNT1 gene muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 is a rare form of muscular dystrophy that affects the muscles in the hips, shoulders, and upper arms. It is caused by mutations in the POMGNT1 gene, which provides instructions for making an enzyme that is important for the structure and function of muscle cells. Without this enzyme, the muscle cells become damaged and eventually die, leading to muscle weakness and wasting.

Symptoms of POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C3

The symptoms of POMGNT1 gene muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 typically begin in childhood or adolescence, although they can also start in adulthood. The most common symptoms include:

• Progressive weakness in the hip, shoulder, and upper arm muscles
• Difficulty walking and climbing stairs
• Frequent falls
• Loss of muscle mass
• Difficulty lifting objects or performing other activities that require arm strength

Diagnosis of POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C3

Diagnosis of POMGNT1 gene muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 typically involves a combination of clinical evaluation, genetic testing, and imaging studies. During the clinical evaluation, a doctor will ask about the patient's symptoms and medical history and perform a physical examination to look for signs of muscle weakness and wasting. Genetic testing can confirm the presence of mutations in the POMGNT1 gene, while imaging studies such as MRI can show changes in the structure of the muscles.

NGS Genetic DNA Test for POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C3

NGS genetic DNA testing is a type of genetic testing that uses next-generation sequencing technology to analyze multiple genes at once. This type of testing can be used to diagnose POMGNT1 gene muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 and other types of muscular dystrophy. The cost of NGS genetic DNA testing for POMGNT1 gene muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 is typically around INR 20,000.

Conclusion

POMGNT1 gene muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 is a rare form of muscular dystrophy that can cause progressive muscle weakness and wasting. Early diagnosis and treatment are important for managing the symptoms and slowing the progression of the disease. NGS genetic DNA testing can be a useful tool for diagnosing this condition, and the cost of testing is typically around INR 20,000.

At DNA Labs India, we offer NGS genetic DNA testing for POMGNT1 gene muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 and other types of muscular dystrophy. Our testing is accurate, reliable, and affordable, and our team of genetic counselors is available to provide support and guidance throughout the testing process.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic DNA Test