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 […]
Metabolic Disorders
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 APOC2 Gene Apolipoprotein C-II deficiency Genetic Test
In the realm of genetic testing, understanding the nuances of specific gene deficiencies is crucial for both patients and medical professionals. Among these, the APOC2 gene, responsible for encoding Apolipoprotein C-II (ApoC-II), plays a pivotal role in lipid metabolism. Deficiencies in this gene can lead to a rare but serious condition known as Apolipoprotein C-II […]
Symptoms and Testing information for BTD Gene Biotinidase deficiency Genetic Test
Understanding Biotinidase Deficiency Biotinidase deficiency is a rare genetic disorder that prevents the body from releasing free biotin, a vital vitamin (B7) necessary for the healthy functioning of several bodily processes. This condition can lead to a variety of health issues if left undiagnosed or untreated. Biotin plays a crucial role in converting certain nutrients […]
Symptoms and Testing information for HSD11B2 Gene Apparent mineralocorticoid excess Genetic Test
Understanding the symptoms associated with the HSD11B2 gene mutation is crucial for those who may be at risk of Apparent Mineralocorticoid Excess (AME). This rare genetic condition can have significant impacts on an individual’s health, making early diagnosis and intervention key. DNA Labs UAE offers a comprehensive genetic test for the HSD11B2 gene, providing individuals […]