SAR1B Gene Chylomicron Retention Disease Genetic Test
Test Name: SAR1B Gene Chylomicron Retention Disease Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 SAR1B Gene Chylomicron Retention Disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Chylomicron Retention Disease.
Test Details: The SAR1B gene is responsible for encoding the protein Sar1b, which plays a crucial role in the formation and trafficking of chylomicrons. Chylomicrons are large lipoprotein particles that transport dietary fat from the intestines to various tissues in the body. Chylomicron retention disease (CRD), also known as Anderson’s disease, is a rare genetic disorder caused by mutations in the SAR1B gene. These mutations result in the impaired formation and secretion of chylomicrons, leading to the accumulation of fat in the intestinal cells and reduced levels of circulating chylomicrons in the blood.
NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify genetic mutations associated with a particular disorder. In the case of CRD, NGS genetic testing can be used to identify mutations in the SAR1B gene that are responsible for the disease. By performing NGS genetic testing for CRD, healthcare providers can diagnose individuals with the disorder, provide appropriate genetic counseling, and offer personalized treatment options.
Additionally, genetic testing can also help identify carriers of the SAR1B gene mutation, allowing for family planning and early detection in at-risk individuals.
Test Name | SAR1B Gene Chylomicron retention 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 SAR1B Gene Chylomicron retention disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Chylomicron retention disease |
Test Details |
The SAR1B gene is responsible for encoding the protein Sar1b, which plays a crucial role in the formation and trafficking of chylomicrons. Chylomicrons are large lipoprotein particles that transport dietary fat from the intestines to various tissues in the body. Chylomicron retention disease (CRD), also known as Anderson’s disease, is a rare genetic disorder caused by mutations in the SAR1B gene. These mutations result in the impaired formation and secretion of chylomicrons, leading to the accumulation of fat in the intestinal cells and reduced levels of circulating chylomicrons in the blood. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify genetic mutations associated with a particular disorder. In the case of CRD, NGS genetic testing can be used to identify mutations in the SAR1B gene that are responsible for the disease. By performing NGS genetic testing for CRD, healthcare providers can diagnose individuals with the disorder, provide appropriate genetic counseling, and offer personalized treatment options. Additionally, genetic testing can also help identify carriers of the SAR1B gene mutation, allowing for family planning and early detection in at-risk individuals. |