Short Description

NGS genetic DNA test detecets for variant and mutation detection in EIF2B2 gene for Leukoencephalopathy with vanishing white matter

PreTest Information

Clinical History of Patient who is going for EIF2B2 Gene Leukoencephalopathy with vanishing white matter NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EIF2B2 Gene Leukoencephalopathy with vanishing white matter

Detail Description

EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic DNA Test

Leukoencephalopathy with vanishing white matter (VWM) is a rare genetic disorder that affects the brain and spinal cord. It is caused by mutations in the EIF2B gene family, specifically the EIF2B2 gene. This gene provides instructions for making a protein that is essential for the normal functioning of nerve cells.

When the EIF2B2 gene is mutated, it can lead to the destruction of white matter in the brain. White matter is responsible for transmitting signals between different areas of the brain and spinal cord. Without it, the brain cannot function properly, leading to a range of symptoms.

Symptoms of Leukoencephalopathy with Vanishing White Matter

The symptoms of leukoencephalopathy with vanishing white matter can vary greatly depending on the age of onset and severity of the condition. Some of the most common symptoms include:

• Progressive loss of motor skills
• Ataxia
• Seizures
• Visual impairment
• Developmental delays
• Cognitive impairment
• Loss of consciousness

In some cases, symptoms may worsen with fever or other stressors, leading to a rapid decline in health. The severity of symptoms can also vary greatly between individuals, even within the same family.

Diagnosis of Leukoencephalopathy with Vanishing White Matter

Diagnosis of leukoencephalopathy with vanishing white matter can be challenging due to the rarity of the condition and the wide range of symptoms. However, genetic testing can help to identify mutations in the EIF2B2 gene and confirm a diagnosis.

The NGS genetic DNA test is a comprehensive test that can detect mutations in the EIF2B2 gene with a high degree of accuracy. This test uses next-generation sequencing technology to analyze the entire gene, making it more sensitive and specific than other genetic tests.

Cost of NGS Genetic DNA Test

The cost of the NGS genetic DNA test for leukoencephalopathy with vanishing white matter is INR 20,000. This test is not covered by insurance, but many labs offer payment plans and financial assistance to help make testing more affordable.

Conclusion

Leukoencephalopathy with vanishing white matter is a rare genetic disorder that can have devastating effects on the brain and spinal cord. Early diagnosis and treatment are essential for improving outcomes and quality of life for affected individuals. The NGS genetic DNA test is a powerful tool for identifying mutations in the EIF2B2 gene and confirming a diagnosis, allowing for earlier intervention and treatment.