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SAR1B Gene Chylomicron retention disease Genetic Test

4,400 د.إ

-21%

The SAR1B gene plays a critical role in the proper digestion and absorption of fats and fat-soluble vitamins in the body. Mutations in this gene can lead to Chylomicron Retention Disease (CRD), a rare genetic disorder characterized by the inability to properly absorb dietary fats, leading to symptoms such as failure to thrive, steatorrhea (fatty stools), and fat-soluble vitamin deficiencies in affected individuals.

To diagnose this condition, a genetic test targeting the SAR1B gene can be conducted. This test involves analyzing the DNA to identify mutations in the SAR1B gene that are known to cause CRD. It is a crucial step for confirming the diagnosis, understanding the disease’s progression, and managing the patient’s condition effectively through dietary modifications and vitamin supplementation.

At DNA Labs UAE, this specific genetic test for the SAR1B gene Chylomicron Retention Disease is available. The cost of the test is 4400 AED. The process involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of mutations in the SAR1B gene. Results from this test can provide essential information for the diagnosis and management of CRD, enabling healthcare providers to offer targeted treatment and dietary recommendations to improve the quality of life for affected individuals.

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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.

SKU: TEST-2225 Category:

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