Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMT2 gene for Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2

PreTest Information

Clinical History of Patient who is going for POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2

Detail Description

POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 NGS Genetic DNA Test

Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 is a genetic disorder that affects the muscles. It is caused by mutations in the POMT2 gene, which plays a vital role in the formation of a protein called alpha-dystroglycan. This protein is essential for maintaining the structural integrity of muscle tissues, and its absence or defects lead to muscle weakness and wasting.

The symptoms of this disorder typically appear in childhood or adolescence, and the severity of the condition varies from person to person. Some of the common symptoms include:

• Progressive muscle weakness and wasting, especially in the hip, shoulder, and thigh muscles
• Difficulty walking and standing up from a sitting position
• Joint contractures
• Cardiomyopathy (heart muscle disease)
• Respiratory difficulties
• Intellectual disability or developmental delay (in some cases)

Diagnosis of POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 is typically based on a combination of clinical symptoms, family history, and genetic testing. Next-Generation Sequencing (NGS) Genetic DNA test is a highly accurate and reliable method for detecting mutations in the POMT2 gene and confirming the diagnosis.

DNA Labs India offers POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 NGS Genetic DNA Test at an affordable cost of INR 20,000. The test is non-invasive and requires a small blood sample. The results are typically available within 2-3 weeks, and a genetic counselor can help interpret the results and provide guidance on available treatment options.

Early diagnosis of POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 is crucial for effective management and treatment of the condition. Although there is currently no cure for this disorder, various supportive treatments can help manage the symptoms and improve the quality of life of affected individuals. DNA testing can also help identify carriers of the mutation, enabling informed family planning decisions.

If you or your loved one is experiencing any of the symptoms mentioned above or has a family history of POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2, we recommend consulting with a genetic counselor and undergoing genetic testing to confirm the diagnosis.

Key Takeaways

• POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 is a genetic disorder that affects the muscles and is caused by mutations in the POMT2 gene.
• NGS Genetic DNA test is a highly accurate and reliable method for detecting mutations in the POMT2 gene and confirming the diagnosis.
• Early diagnosis of POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 is crucial for effective management and treatment of the condition.
• DNA testing can also help identify carriers of the mutation, enabling informed family planning decisions.

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 POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 NGS Genetic DNA Test