Short Description

NGS genetic DNA test detecets for variant and mutation detection in GTPBP2 gene for Neurodegeneration with brain iron accumulation, GTPBP2 related

PreTest Information

Clinical History of Patient who is going for GTPBP2 Gene Neurodegeneration with brain iron accumulation, GTPBP2 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GTPBP2 Gene Neurodegeneration with brain iron accumulation, GTPBP2 related

Detail Description

Neurodegeneration with Brain Iron Accumulation: Understanding GTPBP2 Gene and NGS Genetic DNA Test Cost

Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of rare genetic disorders that affect the brain. These disorders are characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. One of the genes associated with NBIA is the GTPBP2 gene. Mutations in this gene have been linked to NBIA and related disorders.

GTPBP2 Gene and NBIA

The GTPBP2 gene provides instructions for making a protein that is involved in the production of iron-sulfur clusters. Iron-sulfur clusters are critical components of many proteins that play important roles in various cellular processes, including energy production and DNA repair. Mutations in the GTPBP2 gene can lead to a decrease in the production of iron-sulfur clusters, which can result in the accumulation of iron in the brain.

The accumulation of iron in the brain can lead to a range of neurological symptoms, including movement disorders, cognitive impairment, and seizures. These symptoms can vary in severity and can worsen over time.

NGS Genetic DNA Test Cost for GTPBP2-related NBIA

NGS Genetic DNA testing is a powerful tool for diagnosing genetic disorders. This type of testing can detect mutations in the GTPBP2 gene and other genes associated with NBIA. The cost of an NGS Genetic DNA test for GTPBP2-related NBIA can vary depending on the testing facility and the specific tests performed.

At DNA Labs India, the cost of an NGS Genetic DNA test for GTPBP2-related NBIA is INR 20000. This test can help diagnose NBIA and related disorders, allowing for earlier intervention and treatment.

Symptoms and Diagnosis of GTPBP2-related NBIA

The symptoms of GTPBP2-related NBIA can vary depending on the specific mutation and the severity of the disorder. Some common symptoms include:

• Movement disorders, such as dystonia and Parkinsonism
• Cognitive impairment and developmental delays
• Seizures
• Visual disturbances
• Speech difficulties

Diagnosing GTPBP2-related NBIA typically involves a combination of clinical evaluation, imaging studies, and genetic testing. An NGS Genetic DNA test can detect mutations in the GTPBP2 gene and other genes associated with NBIA, providing a definitive diagnosis.

Conclusion

GTPBP2-related NBIA is a rare genetic disorder that can cause a range of neurological symptoms. NGS Genetic DNA testing is a powerful tool for diagnosing this disorder and can help identify mutations in the GTPBP2 gene and other genes associated with NBIA. At DNA Labs India, the cost of an NGS Genetic DNA test for GTPBP2-related NBIA is INR 20000. Early diagnosis and intervention can help improve outcomes for individuals with this disorder, making genetic testing an important tool for healthcare providers.

For more information on genetic testing and NBIA, please visit the DNA Labs India website.

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 GTPBP2 Gene Neurodegeneration with brain iron accumulation, GTPBP2 related NGS Genetic DNA Test