Short Description

NGS genetic DNA test detecets for variant and mutation detection in EIF2B3 gene for Leukoencephalopathy with vanishing white matter

PreTest Information

Clinical History of Patient who is going for EIF2B3 Gene Leukoencephalopathy with vanishing white matter NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EIF2B3 Gene Leukoencephalopathy with vanishing white matter

Detail Description

EIF2B3 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 EIF2B3 gene, which provides instructions for making a protein that is essential for the normal functioning of brain cells. VWM can be diagnosed using Next-Generation Sequencing (NGS) Genetic DNA Test, which detects mutations in the EIF2B3 gene. The cost of this test is INR 20,000.

Symptoms of VWM

The symptoms of VWM usually appear in early childhood, but in some cases, they may not appear until later in life. The severity of symptoms can vary widely, even among individuals with the same mutation. Some common symptoms of VWM include:

• Difficulty walking or controlling movements
• Loss of vision or blindness
• Seizures
• Behavioral changes
• Developmental delays
• Intellectual disability
• Headaches
• Progressive muscle stiffness and weakness
• Loss of coordination
• Coma or death

Diagnosis of VWM

VWM can be diagnosed by performing a genetic test that looks for mutations in the EIF2B3 gene. The NGS Genetic DNA Test is the most accurate and reliable test available for diagnosing VWM. This test can detect all known mutations in the EIF2B3 gene, making it possible to confirm a diagnosis of VWM even in cases where the symptoms are atypical. This test is usually performed on a blood sample, but in some cases, it may be performed on other tissue samples, such as skin cells or muscle tissue.

Cost of NGS Genetic DNA Test for VWM

The cost of the NGS Genetic DNA Test for VWM is INR 20,000. This cost includes the cost of the test itself as well as the cost of any necessary follow-up appointments or consultations with a genetic counselor. Some insurance plans may cover the cost of this test, but coverage varies widely depending on the plan and the individual's specific circumstances. It is important to check with your insurance provider to determine if this test is covered and what out-of-pocket costs you may incur.

Conclusion

VWM is a rare genetic disorder that can cause a wide range of symptoms, including difficulty walking, loss of vision, seizures, and developmental delays. It is caused by mutations in the EIF2B3 gene, which can be detected using the NGS Genetic DNA Test. The cost of this test is INR 20,000. If you or a loved one is experiencing symptoms of VWM, it is important to speak with a healthcare provider or genetic counselor to determine if testing is appropriate.

At DNA Labs India, we offer a wide range of genetic testing services, including the NGS Genetic DNA Test for VWM. Our team of experienced and knowledgeable genetic counselors can help you understand the testing process and what the results mean for you and your family. Contact us today to learn more about our services.