Metabolic Disorders

Understanding the complex nature of genetic disorders is crucial for early diagnosis and treatment. Among these, the SERAC1 gene mutation leads to a rare but severe condition known as 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome (MDLS). DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including a specific test […]

Symptoms of UPD Chr. 6 Gene 6q24-Related Transient Neonatal Diabetes Mellitus Type 1 Genetic Test Transient Neonatal Diabetes Mellitus Type 1 (TNDM1) is a rare form of diabetes that occurs in newborns and is primarily characterized by hyperglycemia within the first six months of life. This condition is often associated with an abnormality in chromosome […]

— Understanding the Symptoms of MTTP Gene Abetalipoproteinemia and the Importance of Genetic Testing Abetalipoproteinemia is a rare inherited disorder affecting the body’s ability to fully absorb and distribute fats and certain vitamins. This condition is caused by mutations in the MTTP gene, which plays a critical role in the creation of lipoproteins, essential for […]

In the realm of genetic testing and diagnostics, understanding the intricacies of our genetic makeup has never been more accessible and insightful. Among the myriad of genetic conditions that can be identified through advanced testing, Acatalasemia, linked to mutations in the CAT gene, stands out due to its unique manifestations and the critical insights that […]

Understanding ACHE Gene Acetylcholinesterase Deficiency Acetylcholinesterase (AChE) deficiency is a rare genetic condition that affects the way the body breaks down acetylcholine, a neurotransmitter essential for muscle movement and various functions in the nervous system. The deficiency is caused by mutations in the ACHE gene, leading to an accumulation of acetylcholine, which can result in […]

Genetic testing has become a cornerstone in the diagnosis and understanding of numerous genetic disorders, allowing for precise identification of conditions that were previously challenging to diagnose. Among these is the deficiency in the ACACA gene, which encodes for the enzyme Acetyl-CoA Carboxylase. This enzyme plays a critical role in fatty acid synthesis, and its […]

— Understanding your genetic predisposition to certain conditions can be a key factor in leading a healthier life. One such condition that affects a significant portion of the population, particularly those of East Asian descent, is acute alcohol sensitivity. This condition is primarily influenced by variations in the ALDH2 gene. DNA Labs UAE offers a […]

Understanding the symptoms of HMGCS2 gene 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 deficiency is crucial for early diagnosis and management of the condition. This genetic disorder affects the body’s ability to produce ketones, which are an important source of energy during periods of fasting. At DNA Labs UAE, we provide a comprehensive genetic test for this condition, which […]

Acute Hepatic Porphyria (AHP) is a group of rare genetic conditions characterized by a deficiency in one of the enzymes involved in the heme biosynthesis pathway. This deficiency leads to the accumulation of porphyrins and their precursors in the body, causing a wide range of symptoms. One type of AHP, linked to the ALAD gene, […]

Symptoms of HADH Gene 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3-Hydroxyacyl-CoA dehydrogenase (HADH) deficiency is a rare genetic disorder that impacts the body’s ability to metabolize certain fats into energy, especially during periods of fasting. This condition, also known as hyperinsulinism-hyperammonemia syndrome, can lead to a variety of symptoms, which may vary significantly among individuals. Recognizing these symptoms […]