— Tay-Sachs Disease is a rare, inherited disorder that primarily affects the nerve cells in the brain and spinal cord. It is a form of a group of genetic conditions known as the GM2 gangliosidoses, which involve the accumulation of toxic substances in the brain’s nerve cells, leading to their progressive dysfunction. One variant of […]
Metabolic Disorders
Symptoms and Testing information for TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 Genetic Test
Understanding the intricacies of our genetic makeup is pivotal in diagnosing and managing various health conditions. Among these, the TPK1 Gene Thiamine Metabolism Dysfunction Syndrome Type 5 stands out due to its significant impact on the body’s ability to metabolize thiamine. This condition, though rare, can lead to a variety of symptoms that can affect […]
Symptoms and Testing information for TJP1 Gene TJP1 deficiency Genetic Test
Understanding the symptoms of TJP1 gene deficiency and the importance of genetic testing is crucial for early diagnosis and management of conditions associated with this genetic anomaly. The TJP1 gene plays a significant role in cellular functions, including cell polarity, proliferation, and the formation of tight junctions between cells. A deficiency in the TJP1 gene […]
Symptoms and Testing information for TPMT Gene TPMT deficiency Genetic Test
In the realm of personalized medicine and genetic testing, understanding the intricacies of our genetic makeup has never been more critical. Among the various genetic tests available, the TPMT (Thiopurine S-methyltransferase) gene deficiency test stands out for its significant implications in pharmacogenomics and personalized healthcare. At DNA Labs UAE, we offer a comprehensive TPMT deficiency […]
Symptoms and Testing information for TALDO1 Gene Transaldolase deficiency Genetic Test
The Transaldolase 1 (TALDO1) gene plays a crucial role in the non-oxidative phase of the pentose phosphate pathway, a metabolic pathway parallel to glycolysis. It is essential for the synthesis of nucleotides and the metabolism of carbohydrates. Deficiency in the TALDO1 gene leads to a rare but serious genetic disorder known as Transaldolase Deficiency. This […]
Symptoms and Testing information for TCN2 Gene Transcobalamin II deficiency Genetic Test
In the realm of genetic testing and diagnosis, the TCN2 gene transcobalamin II deficiency stands out as a critical area of concern for many individuals. This condition, rooted in the genetics of vitamin B12 transportation within the body, can lead to a host of clinical symptoms that significantly impact an individual’s health. At DNA Labs […]
Symptoms and Testing information for HADHA Gene Trifunctional protein deficiency Genetic Test
In the realm of genetic testing and diagnostics, understanding the intricacies of specific gene deficiencies is crucial for early detection and management of various conditions. One such condition, stemming from the HADHA gene, involves the trifunctional protein deficiency. This deficiency can lead to a range of symptoms and health issues that, if identified early, can […]
Symptoms and Testing information for FMO3 Gene Trimethylaminuria Genetic Test
Trimethylaminuria, commonly referred to as fish odor syndrome, is a rare metabolic disorder that is often underdiagnosed due to the lack of awareness and understanding of its symptoms and genetic basis. The condition is caused by mutations in the FMO3 gene, which plays a crucial role in the body’s ability to metabolize and eliminate certain […]
Symptoms and Testing information for TPI1 Gene Triosephosphate isomerase deficiency Genetic Test
Triosephosphate isomerase deficiency (TPI deficiency) is a rare genetic disorder that affects the body’s ability to metabolize carbohydrates properly, leading to a wide range of health issues. The condition is caused by mutations in the TPI1 gene, which plays a crucial role in glycolysis – the process by which cells produce energy from glucose. Recognizing […]
Symptoms and Testing information for SLC52A1 Gene Riboflavin Deficiency Genetic Test
In the realm of genetic testing, the advancements have been significant, providing insights into various conditions that were once a mystery. One such condition that has garnered attention is the deficiency related to the SLC52A1 gene, which is crucial for the proper metabolism of riboflavin (Vitamin B2). DNA Labs UAE stands at the forefront of […]