Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMGNT1 gene for Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3

PreTest Information

Clinical History of Patient who is going for POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3

Detail Description

POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B3 NGS Genetic DNA Test

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 is a rare genetic condition that affects the muscles, brain, and other parts of the body. It is caused by mutations in the POMGNT1 gene, which provides instructions for making an enzyme that is involved in the production of a protein called dystroglycan. Dystroglycan plays an important role in maintaining the structure and function of muscle tissue and the brain.

Symptoms of POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B3

The symptoms of POMGNT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 can vary widely from person to person. Some of the most common symptoms include:

• Muscle weakness and wasting
• Delayed motor milestones
• Cognitive impairment
• Seizures
• Abnormal brain structure
• Eye abnormalities
• Developmental delay
• Hypotonia (low muscle tone)
• Difficulty with speech and communication

Diagnosis of POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B3

Diagnosis of POMGNT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 is typically done through genetic testing. This may involve a variety of methods, including:

• NGS (Next Generation Sequencing) Genetic DNA Test
• PCR (Polymerase Chain Reaction) Testing
• Southern Blotting
• Western Blotting

Genetic testing can help to identify mutations in the POMGNT1 gene, which can confirm the diagnosis of POMGNT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3. Other tests, such as muscle biopsies and imaging studies, may also be used to help diagnose and monitor the condition.

NGS Genetic DNA Test Cost for POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B3

The cost of an NGS genetic DNA test for POMGNT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 in India is typically around INR 20,000. However, the cost may vary depending on the specific testing facility and the individual's insurance coverage.

Conclusion

POMGNT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 is a rare genetic condition that can have a significant impact on a person's health and quality of life. Early diagnosis through genetic testing can help to ensure that individuals receive appropriate treatment and support. If you or a loved one are experiencing symptoms of POMGNT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, it is important to speak with a medical professional to determine the best course of action.

At DNA Labs India, we offer a variety of genetic testing services, including NGS genetic DNA testing for POMGNT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3. Our team of experts is dedicated to providing accurate and reliable testing results, as well as compassionate and personalized support to individuals and families affected by genetic conditions.

Contact us today to learn more about our services and how we can help you.