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 […]
Understanding the symptoms of CLN6 Gene Ceroid Lipofuscinosis Neuronal Type 6 is crucial for early diagnosis and management of this rare genetic disorder. At DNA Labs UAE, we are committed to providing comprehensive genetic testing services, including the CLN6 Gene Ceroid Lipofuscinosis Neuronal Type 6 Genetic Test, to help identify this condition in affected individuals. […]
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide insights into various genetic conditions. Among these, the COQ6 gene Coenzyme Q10 deficiency type 6 genetic test stands out for its importance in diagnosing a rare but significant condition that affects cellular energy production. […]
Understanding the symptoms associated with MFSD8 gene mutations is crucial for early detection and management of Ceroid Lipofuscinosis Neuronal type 7 (CLN7), a rare but severe neurodegenerative disorder. DNA Labs UAE offers comprehensive genetic testing for CLN7, providing invaluable insights for affected families. This article delves into the symptoms indicative of CLN7, emphasizing the importance […]
Coenzyme Q10 (CoQ10) deficiency is a rare genetic condition that affects the body’s ability to produce energy. One specific form of this deficiency is linked to mutations in the COQ4 gene, leading to what is known as Coenzyme Q10 deficiency type 7. This condition can have significant health implications, affecting various systems within the body. […]
Carnitine deficiency is a genetic condition that affects the body’s ability to metabolize fats into energy, particularly during periods of fasting or exercise. This deficiency can lead to various symptoms and health issues, ranging from mild to severe. The SLC22A5 gene plays a crucial role in the transport of carnitine into cells, and mutations in […]
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.
