Bile acid malabsorption (BAM) is a condition that can cause a range of gastrointestinal symptoms, significantly impacting an individual’s quality of life. One of the primary genetic causes of this condition is mutations in the SLC10A2 gene. Understanding the symptoms and getting a timely diagnosis is crucial for managing the condition effectively. DNA Labs UAE […]
Metabolic Disorders
Symptoms and Testing information for HSD3B7 Gene Bile acid synthesis defect type 1 congenital Genetic Test
Bile acids play a crucial role in the digestion and absorption of fats and fat-soluble vitamins in the small intestine. The synthesis of bile acids is a complex biochemical pathway involving multiple enzymes. A defect in any of these enzymes can lead to a bile acid synthesis disorder, which can have significant health implications. One […]
Symptoms and Testing information for AKR1D1 Gene Bile acid synthesis defect type 2 congenital Genetic Test
Bile acid synthesis defects are rare genetic disorders that affect the body’s ability to produce bile acids properly. These acids play a critical role in the digestion and absorption of fats and fat-soluble vitamins. One such disorder is the bile acid synthesis defect type 2, caused by mutations in the AKR1D1 gene. This condition can […]
Symptoms and Testing information for PRF1 Gene Aplastic anemia Genetic Test
Aplastic anemia is a rare but serious condition that occurs when your body stops producing enough new blood cells, leading to fatigue and higher risks of infections and uncontrolled bleeding. A genetic predisposition to this condition can be identified through specific genetic tests, such as the PRF1 gene aplastic anemia genetic test. This test is […]
Symptoms and Testing information for CYP7B1 Gene Bile acid synthesis defect type 3 congenital Genetic Test
The CYP7B1 gene plays a critical role in the synthesis of bile acids, which are essential for the digestion and absorption of fats and fat-soluble vitamins in the intestines. A defect in this gene can lead to a rare congenital disorder known as bile acid synthesis defect type 3. This condition can have significant health […]
Symptoms and Testing information for SBDS Gene Aplastic anemia SBDS related Genetic Test
Aplastic anemia is a rare but serious condition that affects the bone marrow, leading to a deficiency in all types of blood cells. This condition can be inherited or acquired, and among the genetic causes, mutations in the SBDS gene have been identified as a significant contributor. Understanding the symptoms of SBDS gene-related aplastic anemia […]
Symptoms and Testing information for AMACR Gene Bile acid synthesis defect type 4 congenital Genetic Test
Bile acid synthesis defects are a group of rare metabolic disorders that result from genetic mutations affecting the normal production of bile acids. These acids play a crucial role in the digestion and absorption of fats and fat-soluble vitamins in the intestines. Among these conditions, Type 4 congenital bile acid synthesis defect, caused by mutations […]
Symptoms and Testing information for APOA2 Gene Apolipoprotein A-II deficiency Genetic Test
In the realm of genetic diagnostics and personalized medicine, understanding the nuances of our genetic makeup has never been more critical. Among the myriad of genetic tests available, the APOA2 Gene Apolipoprotein A-II Deficiency Genetic Test stands out for its significance in detecting potential health risks related to lipid metabolism disorders. This test, offered by […]
Symptoms and Testing information for ABCD3 Gene Bile acid synthesis defect type 5 congenital Genetic Test
The ABCD3 gene plays a critical role in the synthesis of bile acids, which are essential for the digestion and absorption of fats and fat-soluble vitamins. A defect in this gene can lead to a rare but serious condition known as bile acid synthesis defect type 5. This congenital genetic disorder can have significant implications […]
Symptoms and Testing information for NR0B1 Gene Adrenal Hypoplasia Genetic Test
Adrenal hypoplasia congenita (AHC) is a rare genetic condition that affects the development and functionality of the adrenal glands, which are crucial for producing hormones that regulate various bodily functions. The NR0B1 gene, also known as DAX1, plays a significant role in this condition. Mutations in the NR0B1 gene can lead to the congenital form […]