Short Description

NGS genetic DNA test detecets for variant and mutation detection in B4GAT1 gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13

PreTest Information

Clinical History of Patient who is going for B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13

Detail Description

B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A13 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 is a rare genetic disorder that affects the muscles, brain, and eyes. It is caused by mutations in the B4GAT1 gene, which provides instructions for making an enzyme called beta-1,4-glucuronyltransferase 1. This enzyme is important for the proper function of a group of proteins called dystroglycans, which are essential for normal muscle and brain development.

Symptoms of B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A13

The symptoms of B4GAT1 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 can vary widely. The most common symptoms include:

• Weakness and wasting of the muscles, especially those in the hips, shoulders, and upper arms
• Intellectual disability
• Brain malformations, such as lissencephaly, which is a condition characterized by a smooth brain surface with few or no folds
• Vision problems, such as cataracts or retinal abnormalities
• Epilepsy
• Difficulty with movement and coordination

Diagnosis of B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A13

Diagnosis of B4GAT1 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 typically involves a combination of clinical evaluation, imaging studies, and genetic testing.

Genetic testing is the most reliable way to confirm a diagnosis of B4GAT1 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13. The most common genetic test used to diagnose this condition is next-generation sequencing (NGS). This test looks for mutations in the B4GAT1 gene that are associated with the disorder. NGS is a highly accurate and reliable test that can detect even small changes in the gene.

NGS Genetic DNA Test Cost INR: 20000

The cost of NGS genetic DNA testing for B4GAT1 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 at DNA Labs India is INR 20000. This test is performed using state-of-the-art equipment and technologies to ensure accurate and reliable results.

Conclusion

B4GAT1 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 is a rare genetic disorder that can have a significant impact on a person's quality of life. Early diagnosis is important for effective management of the condition and to prevent complications. Next-generation sequencing genetic DNA testing is a reliable and accurate way to diagnose this condition and is available at DNA Labs India at an affordable cost of INR 20000.