LIPA Gene Cholesteryl Ester Storage Disease Genetic Test
Test Details
The LIPA gene cholesteryl ester storage disease NGS genetic test is a type of genetic test that is used to identify mutations or variations in the LIPA gene. This gene is responsible for producing an enzyme called lysosomal acid lipase (LAL), which is involved in the breakdown of cholesteryl esters and triglycerides in the body.
Cholesteryl ester storage disease (CESD) is a rare inherited disorder characterized by the accumulation of cholesteryl esters and triglycerides in various tissues, including the liver, spleen, and blood vessels. This accumulation can lead to a range of symptoms, including hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and cardiovascular complications.
The NGS (Next-Generation Sequencing) genetic test for LIPA gene CESD involves sequencing the entire LIPA gene to identify any mutations or variations that may be present. This test can help confirm a diagnosis of CESD and provide information about the specific genetic variant causing the condition.
Genetic testing for LIPA gene CESD can be useful for individuals who have symptoms suggestive of the disease, as well as for family members of affected individuals who may be at risk of inheriting the condition. It can help in the management and treatment of the disease, as well as provide information about the risk of passing the condition on to future generations.
It is important to note that genetic testing for LIPA gene CESD should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the test results.
Test Name
LIPA Gene Cholesteryl Ester Storage Disease 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: Metabolic Disorders
- Doctor: General Physician
- Test Department: Genetics
Pre Test Information
Clinical History of Patient who is going for LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Cholesteryl Ester Storage Disease.
Test Name | LIPA Gene Cholesteryl ester storage disease 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 | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for LIPA Gene Cholesteryl ester storage disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cholesteryl ester storage disease |
Test Details |
LIPA gene cholesteryl ester storage disease NGS genetic test is a type of genetic test that is used to identify mutations or variations in the LIPA gene. This gene is responsible for producing an enzyme called lysosomal acid lipase (LAL), which is involved in the breakdown of cholesteryl esters and triglycerides in the body. Cholesteryl ester storage disease (CESD) is a rare inherited disorder characterized by the accumulation of cholesteryl esters and triglycerides in various tissues, including the liver, spleen, and blood vessels. This accumulation can lead to a range of symptoms, including hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and cardiovascular complications. The NGS (Next-Generation Sequencing) genetic test for LIPA gene CESD involves sequencing the entire LIPA gene to identify any mutations or variations that may be present. This test can help confirm a diagnosis of CESD and provide information about the specific genetic variant causing the condition. Genetic testing for LIPA gene CESD can be useful for individuals who have symptoms suggestive of the disease, as well as for family members of affected individuals who may be at risk of inheriting the condition. It can help in the management and treatment of the disease, as well as provide information about the risk of passing the condition on to future generations. It is important to note that genetic testing for LIPA gene CESD should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the test results. |