Short Description

NGS genetic DNA test detecets for variant and mutation detection in EIF2B1 gene for Leukoencephalopathy with vanishing white matter

PreTest Information

Clinical History of Patient who is going for EIF2B1 Gene Leukoencephalopathy with vanishing white matter NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EIF2B1 Gene Leukoencephalopathy with vanishing white matter

Detail Description

EIF2B1 Gene Leukoencephalopathy with vanishing white matter NGS Genetic DNA Test

Leukoencephalopathy with vanishing white matter (VWM) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the EIF2B1 gene, which codes for a protein that helps regulate protein synthesis in cells. VWM can be diagnosed using Next-Generation Sequencing (NGS) Genetic DNA testing.

Symptoms of VWM

The symptoms of VWM usually begin in early childhood and can include:

• Loss of motor skills
• Stiffness and spasticity
• Seizures
• Visual impairment
• Developmental delay
• Behavioral changes

The severity of symptoms can vary, even within families with the same genetic mutation.

Diagnosing VWM

VWM can be diagnosed using genetic testing, which looks for mutations in the EIF2B1 gene. NGS technology can analyze multiple genes simultaneously, making it a more efficient and cost-effective way to test for VWM.

If a patient is suspected to have VWM based on their symptoms, a DNA sample can be taken from blood or saliva. The sample is then sent to a laboratory for analysis.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA testing for VWM can vary depending on the laboratory and location. In India, the cost can range from INR 20,000 to INR 30,000.

Benefits of NGS Genetic DNA Test

NGS Genetic DNA testing can provide an accurate diagnosis for VWM, allowing for earlier intervention and management of symptoms. It can also help identify carriers of the genetic mutation, which can be important for family planning.

In addition, NGS technology allows for analysis of multiple genes at once, which can save time and cost compared to traditional genetic testing methods.

In Conclusion

VWM is a rare genetic disorder that can be diagnosed using NGS Genetic DNA testing. Early diagnosis can help with symptom management and family planning. The cost of testing can vary, but NGS technology can provide an efficient and cost-effective option for diagnosis.

If you or a loved one is experiencing symptoms of VWM, it is important to consult with a healthcare professional and consider genetic testing.

At DNA Labs India, we offer NGS Genetic DNA testing for VWM and other genetic disorders. Contact us today to learn more.