3-Methylglutaconic aciduria type 1 is a rare genetic disorder that can lead to various health issues ranging from developmental delays to metabolic abnormalities. This condition is caused by mutations in the AUH gene, which plays a critical role in the body’s leucine metabolism. Understanding the symptoms of this genetic disorder is crucial for early diagnosis […]
In the realm of genetic diagnostics, understanding the intricate details of specific genetic conditions is pivotal for effective management and treatment. One such condition that has garnered attention is the OPA3 Gene 3-Methylglutaconic Aciduria Type 3. This disorder, although rare, presents with a spectrum of symptoms that can significantly impact an individual’s quality of life. […]
DNAJC19 gene 3-methylglutaconic aciduria type 5 is a rare genetic disorder that affects various parts of the body, including the brain, muscles, and heart. This condition is part of a group of diseases known as mitochondrial DNA depletion syndromes, which are characterized by a significant reduction in mitochondrial DNA within cells. The DNAJC19 gene plays […]
Symptoms of CLPB Gene 3-Methylglutaconic Aciduria Type 7 with Cataracts, Neurologic Involvement, and Neutropenia 3-Methylglutaconic aciduria type 7, caused by mutations in the CLPB gene, is a rare genetic disorder. This condition is part of a group of diseases known as 3-methylglutaconic acidurias, which are characterized by the body’s inability to correctly break down certain […]
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 […]
The HSD3B2 gene plays a crucial role in the production of hormones in the body. It is involved in the biosynthesis of all classes of steroid hormones, including glucocorticoids, mineralocorticoids, and sex steroids. Deficiency in the enzyme 3-beta-hydroxysteroid dehydrogenase, due to mutations in the HSD3B2 gene, can lead to a rare disorder known as 3-Beta-Hydroxysteroid […]
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.
