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Accurate Test Results for EIF2B4 Gene Leukoencephalopathy with vanishing white matter NGS Genetic DNA Test
EIF2B4 Gene Leukoencephalopathy with vanishing white matter NGS Genetic DNA Test Cost 20000 Rs
EIF2B4 Gene Leukoencephalopathy with vanishing white matter NGS Genetic DNA Test Details
EIF2B4 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic DNA Test Cost INR: 20,000 Symptoms Diagnosis
Leukoencephalopathy with vanishing white matter (VWM) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the EIF2B1-5 genes, which encode the five subunits of the eukaryotic initiation factor 2B (eIF2B) complex. Among these genes, EIF2B4 is the most commonly mutated one. DNA Labs India offers an NGS genetic DNA test for EIF2B4 gene mutations associated with VWM at a cost of INR 20,000.
Symptoms of VWM
VWM usually starts in early childhood and progresses slowly over time. The symptoms vary depending on the severity of the disease. Some common symptoms include:
- Difficulty walking and poor balance
- Loss of motor skills
- Speech problems
- Seizures
- Visual impairment
- Cognitive decline
- Behavioral changes
The severity and progression of symptoms can vary greatly among individuals with VWM, even within the same family.
Diagnosis of VWM
VWM is diagnosed through a combination of clinical evaluation, brain imaging, and genetic testing. Brain MRI scans can show characteristic changes in the white matter of the brain, which can help distinguish VWM from other leukodystrophies. Genetic testing is essential for confirming the diagnosis and identifying the specific EIF2B gene mutations responsible for the disease. DNA Labs India offers an NGS genetic DNA test for EIF2B4 gene mutations associated with VWM at a cost of INR 20,000.
Genetic Testing for VWM
The NGS genetic DNA test offered by DNA Labs India can detect mutations in the EIF2B4 gene that are associated with VWM. This test uses next-generation sequencing technology to analyze the entire coding region of the EIF2B4 gene, as well as adjacent intronic regions. The test has a high sensitivity and specificity, and can detect both known and novel mutations in the gene.
Genetic testing for VWM can provide important information for families affected by the disease. It can confirm the diagnosis, identify carriers of the mutation, and provide information about the risk of passing the mutation on to future generations. It can also help guide medical management and treatment decisions for individuals with VWM.
Conclusion
VWM is a rare genetic disorder that can cause significant neurological symptoms and disability. Genetic testing is essential for confirming the diagnosis and identifying the specific EIF2B gene mutations responsible for the disease. DNA Labs India offers an NGS genetic DNA test for EIF2B4 gene mutations associated with VWM at a cost of INR 20,000. This test can provide important information for families affected by the disease and help guide medical management and treatment decisions.
If you suspect that you or a family member may have VWM, it is important to consult with a medical professional and consider genetic testing.
Contact DNA Labs India today to learn more about our NGS genetic DNA test for EIF2B4 gene mutations associated with VWM.
