Understanding the symptoms and underlying genetic causes of certain diseases is crucial for effective diagnosis and management. Among these, Cholestasis of benign recurrent intrahepatic type 2, caused by mutations in the ABCB11 gene, is a condition that requires particular attention. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing accurate […]
Metabolic Disorders
Symptoms and Testing information for ABCB4 Gene Cholestasis intrahepatic of pregnancy type 3 Genetic Test
Cholestasis of pregnancy, also known as intrahepatic cholestasis of pregnancy (ICP), is a liver disorder that occurs in pregnant women. This condition can cause severe itching and increase the risk of fetal distress, preterm birth, and stillbirth. One of the genetic factors associated with this condition is mutations in the ABCB4 gene, which can lead […]
Symptoms and Testing information for ATP8B1 Gene Cholestasis progressive intrahepatic type 1 Genetic Test
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 […]
Symptoms and Testing information for ABCB11 Gene Cholestasis progressive intrahepatic type 2 Genetic Test
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, […]
Symptoms and Testing information for ABCB4 Gene Cholestasis progressive intrahepatic type 3 Genetic Test
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 […]
Symptoms and Testing information for ATP8B1 Gene Cholestasis benign recurrent intrahepatic Genetic Test
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 […]
Symptoms and Testing information for ATP8B1 Gene Cholestasis intrahepatic of pregnancy type 1 Genetic Test
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 […]
Symptoms and Testing information for LIPA Gene Cholesteryl ester storage disease Genetic Test
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 […]
Symptoms and Testing information for SAR1B Gene Chylomicron retention disease Genetic Test
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 and Testing information for SLC25A13 Gene Citrin deficiency Genetic Test
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 […]