In the realm of genetic diagnostics and personalized medicine, understanding the intricacies of specific genetic conditions is paramount for both patients and healthcare providers. One such condition that has garnered attention due to its rarity and unique symptomatology is Tangier disease, a disorder linked to mutations in the ABCA1 gene. At DNA Labs UAE, we […]
Metabolic Disorders
Symptoms and Testing information for HEXA Gene Tay-Sachs disease Genetic Test
Symptoms of HEXA Gene Tay-Sachs Disease Genetic Test Tay-Sachs disease is a rare, inherited disorder that destroys nerve cells in the brain and spinal cord. The condition is caused by mutations in the HEXA gene, which leads to a deficiency of an enzyme known as beta-hexosaminidase A. This enzyme is crucial for the breakdown of […]
Symptoms and Testing information for GM2A Gene Tay-Sachs disease AB variant Genetic Test
— 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 […]
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 PEX7 Gene Refsum Disease Genetic Test
Refsum Disease is a rare genetic disorder characterized by the accumulation of phytanic acid in the plasma and tissues of the body. This accumulation can lead to a variety of symptoms that can significantly impact an individual’s quality of life. The PEX7 gene plays a crucial role in the metabolism of phytanic acid, and mutations […]