PNPLA2 Gene Neutral lipid storage disease with myopathy 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 PNPLA2 Gene Neutral lipid storage disease with myopathy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PNPLA2 Gene Neutral lipid storage disease with myopathy.
Test Details
The PNPLA2 gene is associated with neutral lipid storage disease with myopathy, also known as NLSDM. This condition is a rare genetic disorder characterized by the abnormal accumulation of neutral lipids in various tissues, particularly in muscle cells.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of NLSDM, NGS genetic testing can identify mutations or variations in the PNPLA2 gene that may be responsible for the development of the disease.
By analyzing the PNPLA2 gene, NGS genetic testing can help confirm a diagnosis of NLSDM and provide information about the specific genetic variant involved. This information is important for understanding the underlying cause of the disease, predicting its progression, and guiding treatment decisions.
It’s important to note that genetic testing should be performed and interpreted by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and support.
Test Name | PNPLA2 Gene Neutral lipid storage disease with myopathy 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 PNPLA2 Gene Neutral lipid storage disease with myopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PNPLA2 Gene Neutral lipid storage disease with myopathy |
Test Details |
The PNPLA2 gene is associated with neutral lipid storage disease with myopathy, also known as NLSDM. This condition is a rare genetic disorder characterized by the abnormal accumulation of neutral lipids in various tissues, particularly in muscle cells. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of NLSDM, NGS genetic testing can identify mutations or variations in the PNPLA2 gene that may be responsible for the development of the disease. By analyzing the PNPLA2 gene, NGS genetic testing can help confirm a diagnosis of NLSDM and provide information about the specific genetic variant involved. This information is important for understanding the underlying cause of the disease, predicting its progression, and guiding treatment decisions. It’s important to note that genetic testing should be performed and interpreted by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and support. |