VPS53 Gene Pontocerebellar Hypoplasia Type 2E Genetic Test
At DNA Labs UAE, we offer the VPS53 Gene Pontocerebellar Hypoplasia Type 2E Genetic Test to help diagnose and understand this rare genetic disorder. The test is conducted using NGS technology, allowing for the analysis of multiple genes simultaneously.
Test Details
The VPS53 gene is associated with a condition called pontocerebellar hypoplasia type 2E (PCH2E). This disorder affects the development of the brain, specifically the pons and cerebellum. Common symptoms include severe intellectual disability, delayed motor development, muscle weakness, and problems with coordination and balance.
Test Components and Price
The VPS53 Gene Pontocerebellar Hypoplasia Type 2E Genetic Test is priced at 4400.0 AED. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card.
Report Delivery
After the sample is collected, the report will be delivered within 3 to 4 weeks.
Test Type and Department
The VPS53 Gene Pontocerebellar Hypoplasia Type 2E Genetic Test falls under the category of Neurological Disorders and is conducted in our Genetics department.
Pre-Test Information
Prior to the test, it is important to provide the clinical history of the patient who will be undergoing the VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS Genetic DNA Test. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by this condition.
Importance of Genetic Testing
NGS genetic testing allows for the identification of mutations or variants in the VPS53 gene that may be responsible for pontocerebellar hypoplasia type 2E. This testing can help confirm a diagnosis, provide information about the genetic cause of the disorder, and guide genetic counseling and family planning decisions.
It is crucial to note that genetic testing for PCH2E and other genetic conditions should always be conducted under the guidance of a healthcare professional, such as a neurologist, geneticist, or genetic counselor. These professionals can interpret the test results and provide appropriate support and counseling.
| Test Name | VPS53 Gene Pontocerebellar hypoplasia type 2E 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 VPS53 Gene Pontocerebellar hypoplasia type 2E NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VPS53 Gene Pontocerebellar hypoplasia type 2E |
| Test Details |
The VPS53 gene is associated with a condition called pontocerebellar hypoplasia type 2E (PCH2E). PCH2E is a rare genetic disorder that affects the development of the brain, specifically the pons and cerebellum. It is characterized by severe intellectual disability, delayed motor development, muscle weakness, and problems with coordination and balance. NGS genetic testing refers to next-generation sequencing, a technique that allows for the analysis of multiple genes simultaneously. In the context of PCH2E, NGS genetic testing can be used to identify mutations or variants in the VPS53 gene that may be responsible for the condition. This type of testing can help confirm a diagnosis, provide information about the genetic cause of the disorder, and inform genetic counseling and family planning decisions. It’s important to note that genetic testing for PCH2E and other genetic conditions should be conducted under the guidance of a healthcare professional, such as a geneticist or genetic counselor, who can interpret the results and provide appropriate support and counseling. |
