PEX12 Gene Zellweger Syndrome Genetic Test
Components
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 PEX12 Gene Zellweger syndrome NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with PEX12 Gene Zellweger syndrome
Test Details
The PEX12 gene is associated with Zellweger syndrome, which is a rare genetic disorder characterized by the absence or dysfunction of peroxisomes in cells. Peroxisomes are cellular structures involved in various metabolic processes, including the breakdown of fatty acids and the detoxification of harmful substances.
NGS (Next-Generation Sequencing) is a high-throughput genetic testing method that allows for the rapid sequencing of a large number of genes simultaneously. It can be used to identify mutations or variations in the PEX12 gene that may be responsible for Zellweger syndrome.
The PEX12 gene NGS genetic test involves collecting a DNA sample, typically through a blood sample, from the individual suspected of having Zellweger syndrome. The DNA is then sequenced using NGS technology to identify any variations or mutations in the PEX12 gene.
The results of the test can help confirm a diagnosis of Zellweger syndrome and provide information about the specific genetic mutation involved. It is important to note that Zellweger syndrome is a severe and life-threatening condition, and there is currently no cure. Treatment focuses on managing symptoms and providing supportive care to improve quality of life.
Genetic testing, such as the PEX12 gene NGS test, can help with early diagnosis and may assist in providing appropriate medical management and genetic counseling for affected individuals and their families.
| Test Name | PEX12 Gene Zellweger syndrome 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 PEX12 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX12 Gene Zellweger syndrome |
| Test Details |
The PEX12 gene is associated with Zellweger syndrome, which is a rare genetic disorder characterized by the absence or dysfunction of peroxisomes in cells. Peroxisomes are cellular structures involved in various metabolic processes, including the breakdown of fatty acids and the detoxification of harmful substances. NGS (Next-Generation Sequencing) is a high-throughput genetic testing method that allows for the rapid sequencing of a large number of genes simultaneously. It can be used to identify mutations or variations in the PEX12 gene that may be responsible for Zellweger syndrome. The PEX12 gene NGS genetic test involves collecting a DNA sample, typically through a blood sample, from the individual suspected of having Zellweger syndrome. The DNA is then sequenced using NGS technology to identify any variations or mutations in the PEX12 gene. The results of the test can help confirm a diagnosis of Zellweger syndrome and provide information about the specific genetic mutation involved. It is important to note that Zellweger syndrome is a severe and life-threatening condition, and there is currently no cure. Treatment focuses on managing symptoms and providing supportive care to improve quality of life. Genetic testing, such as the PEX12 gene NGS test, can help with early diagnosis and may assist in providing appropriate medical management and genetic counseling for affected individuals and their families. |
