EIF2B3 Gene Leukoencephalopathy with vanishing white matter Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test type: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test 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.
Test Details
The EIF2B3 gene is associated with a rare genetic disorder called leukoencephalopathy with vanishing white matter (VWM). This disorder affects the central nervous system, particularly the white matter of the brain.
A next-generation sequencing (NGS) genetic test for the EIF2B3 gene can be used to identify mutations or variations in this gene that may be responsible for VWM. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire exome (the protein-coding regions of the genome).
By analyzing the EIF2B3 gene using NGS, healthcare professionals can determine if a patient carries any pathogenic or disease-causing variants in this gene. This information can be crucial for diagnosing VWM and providing appropriate genetic counseling to affected individuals and their families.
It is important to note that genetic testing for VWM is typically recommended for individuals with symptoms suggestive of the disorder, such as progressive neurological deterioration, ataxia, spasticity, or seizures. Genetic testing is not typically performed as a routine screening test.
If you suspect that you or someone you know may have VWM or are at risk for carrying pathogenic variants in the EIF2B3 gene, it is recommended to consult with a healthcare professional or a genetic counselor who can guide you through the testing process and provide appropriate guidance and support.
Test Name | EIF2B3 Gene Leukoencephalopathy with vanishing white matter Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test 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 |
Test Details |
The EIF2B3 gene is associated with a rare genetic disorder called leukoencephalopathy with vanishing white matter (VWM). This disorder affects the central nervous system, particularly the white matter of the brain. A next-generation sequencing (NGS) genetic test for the EIF2B3 gene can be used to identify mutations or variations in this gene that may be responsible for VWM. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire exome (the protein-coding regions of the genome). By analyzing the EIF2B3 gene using NGS, healthcare professionals can determine if a patient carries any pathogenic or disease-causing variants in this gene. This information can be crucial for diagnosing VWM and providing appropriate genetic counseling to affected individuals and their families. It is important to note that genetic testing for VWM is typically recommended for individuals with symptoms suggestive of the disorder, such as progressive neurological deterioration, ataxia, spasticity, or seizures. Genetic testing is not typically performed as a routine screening test. If you suspect that you or someone you know may have VWM or are at risk for carrying pathogenic variants in the EIF2B3 gene, it is recommended to consult with a healthcare professional or a genetic counselor who can guide you through the testing process and provide appropriate guidance and support. |