Cholestasis progressive intraheptic type 1, also known as Byler disease, is a rare genetic condition that affects the liver. It is caused by mutations in the ATP8B1 gene. This condition is characterized by impaired bile flow (cholestasis), which can lead to liver damage. Understanding the symptoms and undergoing genetic testing can be crucial for early […]
Cholestasis is a liver condition that slows or stops the flow of bile from the liver. Bile is essential for digesting fats and removing waste products from the body. When bile flow is impaired, it can cause a buildup of bile acids in the liver, leading to liver damage. One specific form of this condition, […]
The ABCB4 gene plays a crucial role in the body, particularly in the liver. It is responsible for producing a protein that helps move bile acids out of liver cells. When there is a mutation in this gene, it can lead to a condition known as progressive intrahepatic cholestasis type 3. This condition is characterized […]
Cholestasis is a condition characterized by the reduction or stoppage of bile flow from the liver to the duodenum. Among its various types, Benign Recurrent Intrahepatic Cholestasis (BRIC) associated with the ATP8B1 gene is a rare genetic disorder. This condition can lead to significant discomfort and health issues for those affected. DNA Labs UAE offers […]
In the complex and ever-evolving field of genetics, understanding the intricate details of specific conditions can be a gateway to tailored healthcare and improved outcomes. Among these conditions, intraheptic cholestasis of pregnancy (ICP) stands out due to its potential impact on pregnant individuals and their unborn children. The ATP8B1 gene cholestasis intrahepatic of pregnancy type […]
Cholesteryl ester storage disease (CESD) is a rare genetic disorder that affects the body’s ability to break down cholesterol and triglycerides. This condition is caused by mutations in the LIPA gene, which plays a crucial role in the lysosomal degradation of lipids. Individuals with CESD accumulate large amounts of cholesteryl esters and triglycerides in various […]
Chylomicron retention disease, also known as Anderson’s disease or Hypobetalipoproteinemia Type 1, is a rare genetic disorder that affects the body’s ability to absorb fats and certain vitamins from the diet. This condition is caused by mutations in the SAR1B gene, which plays a crucial role in the assembly and secretion of chylomicrons, particles that […]
Symptoms of SLC25A13 Gene Citrin Deficiency Genetic Test The SLC25A13 gene, also known as citrin, plays a crucial role in the body’s metabolic processes. Citrin deficiency, resulting from mutations in the SLC25A13 gene, can lead to a range of health issues, which vary in severity and onset age. Recognizing the symptoms of citrin deficiency is […]
Ceroid lipofuscinosis neuronal type 5 (CLN5) is a rare genetic disorder that falls under a group of conditions known as neuronal ceroid lipofuscinoses (NCLs). These disorders are characterized by the accumulation of lipopigments, such as ceroid and lipofuscin, in the body’s tissues. These pigments, which are made up of fats and proteins, accumulate in the […]
Citrullinemia is a rare genetic disorder that affects the body’s ability to remove ammonia from the bloodstream. This condition is caused by mutations in the ASS1 gene, which plays a crucial role in the urea cycle. The urea cycle is a series of chemical reactions in the liver that convert ammonia, a toxic byproduct of […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
