Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMGNT1 gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

PreTest Information

Clinical History of Patient who is going for POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 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 brain and eye anomalies), type A3

Detail Description

POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A3 NGS Genetic DNA Test

Muscular dystrophy is a group of genetic disorders that cause progressive weakness and loss of muscle mass. One of the rarest forms of muscular dystrophy is the congenital muscular dystrophy-dystroglycanopathy (CMD-DG), type A3, caused by mutations in the POMGNT1 gene. This type of muscular dystrophy is characterized by brain and eye anomalies, which can lead to intellectual disability, seizures, and vision problems.

Symptoms

The symptoms of CMD-DG, type A3 can vary widely from person to person. Some of the common symptoms include:

• Muscle weakness
• Difficulty with motor skills such as crawling, walking, and running
• Intellectual disability
• Seizures
• Vision problems
• Brain abnormalities

These symptoms usually appear at birth or in the first few months of life. However, some people may develop symptoms later in childhood or even in adulthood.

Diagnosis

CMD-DG, type A3 is diagnosed through genetic testing. The most common type of genetic testing is Next-Generation Sequencing (NGS) DNA testing. This type of testing can identify mutations in the POMGNT1 gene that are associated with CMD-DG, type A3. A blood sample is typically used for this test.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for CMD-DG, type A3 in India is typically around INR 20,000. However, the cost may vary depending on the laboratory or facility that performs the test.

Conclusion

CMD-DG, type A3 is a rare form of muscular dystrophy that can cause significant physical and cognitive disabilities. Early diagnosis through genetic testing can help individuals and their families better manage the condition and plan for appropriate treatment and care. If you or someone you know is experiencing symptoms of CMD-DG, type A3, it is important to speak with a healthcare provider and consider genetic testing.

For more information on genetic testing for CMD-DG, type A3 or other genetic disorders, contact DNA Labs India.

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 (congenital with brain and eye anomalies), type A3 NGS Genetic DNA Test