Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMT1 gene for Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1

PreTest Information

Clinical History of Patient who is going for POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1

Detail Description

POMT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B1: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 is a rare genetic disorder that affects the muscles and brain. It is caused by mutations in the POMT1 gene that provide instructions for making an enzyme called protein O-mannosyltransferase 1. This enzyme is essential for the proper development and maintenance of muscle and brain tissue.

Symptoms of POMT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B1

The symptoms of POMT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 can vary depending on the severity of the condition and the age of onset. The most common symptoms include:

• Weakness in the muscles, especially in the legs and arms
• Poor muscle tone (hypotonia)
• Difficulty with movement and coordination
• Intellectual disability or developmental delay
• Seizures
• Vision problems
• Skeletal abnormalities

Diagnosis of POMT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B1

Diagnosis of POMT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 can be challenging because the symptoms can be similar to other neuromuscular disorders. However, a combination of tests can be used to make an accurate diagnosis, including:

• Physical examination and medical history
• Genetic testing to identify mutations in the POMT1 gene
• Muscle biopsy to look for abnormalities in muscle tissue
• Brain imaging to detect abnormalities in brain development

NGS Genetic DNA Test Cost for POMT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B1

Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and efficient way to detect mutations in the POMT1 gene. The cost of this test in India is around INR 20,000. It is important to note that the cost may vary depending on the laboratory and location.

Conclusion

POMT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 is a rare genetic disorder that affects muscle and brain development. Early diagnosis and treatment can help manage symptoms and improve quality of life. NGS genetic DNA testing is a reliable and efficient way to detect mutations in the POMT1 gene, and the cost of the test is around INR 20,000 in India.

If you suspect that you or a loved one may have POMT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1, it is important to speak with a healthcare professional for proper diagnosis and treatment.

DNA Labs India offers NGS genetic DNA testing for POMT1 gene muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 at an affordable cost. Contact us today to learn more.

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 POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 NGS Genetic DNA Test