In the realm of genetic diagnostics, the ability to pinpoint specific genetic disorders has transformed the landscape of medical science and patient care. Among these advancements, the identification of mutations within the NNT gene, which can lead to glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency, represents a critical step forward. DNA Labs UAE […]
Metabolic Disorders
Symptoms and Testing information for SLC5A1 Gene GlucoseGalactose malabsorption Genetic Test
Symptoms of SLC5A1 Gene Glucose-Galactose Malabsorption Genetic Test Glucose-Galactose Malabsorption (GGM) is a rare genetic disorder that impacts the body’s ability to absorb glucose and galactose, two primary sugars found in our diet. This condition is caused by mutations in the SLC5A1 gene, which plays a crucial role in the absorption of glucose and galactose […]
Symptoms and Testing information for FTCD Gene Glutamate formiminotransferase deficiency Genetic Test
Symptoms of FTCD Gene Glutamate Formiminotransferase Deficiency Glutamate formiminotransferase deficiency is a rare genetic disorder caused by mutations in the FTCD gene. This condition affects the body’s ability to process certain amino acids, leading to a range of symptoms that can impact an individual’s health and quality of life. Understanding these symptoms is crucial for […]
Symptoms and Testing information for GLUL Gene Glutamine deficiency congenital Genetic Test
In the realm of genetic testing, the understanding and identification of specific gene deficiencies have become crucial in diagnosing and treating various congenital conditions. One such condition, caused by deficiencies in the GLUL gene, can lead to severe health implications if not identified and managed properly. The GLUL gene is responsible for the synthesis of […]
Symptoms and Testing information for GCDH Gene Glutaric acidemia type 1 Genetic Test
Symptoms of GCDH Gene Glutaric Acidemia Type 1 Glutaric acidemia type 1 is a rare genetic disorder that affects the body’s ability to process certain types of amino acids properly. This condition is caused by mutations in the GCDH gene, leading to an accumulation of harmful substances in the body, which can damage the brain […]
Symptoms and Testing information for GALT Gene Galactosemia Genetic Test
Galactosemia is a rare genetic metabolic disorder that affects an individual’s ability to metabolize the sugar galactose properly. It is caused by mutations in the GALT gene, which encodes the enzyme galactose-1-phosphate uridylyltransferase. This enzyme is crucial for the normal processing of galactose, a sugar found in all foods that contain milk. When the GALT […]
Symptoms and Testing information for ETFDH Gene Glutaric acidemia type 2C Genetic Test
Genetic testing has become an essential part of modern healthcare, offering insights into inherited conditions and enabling early intervention. Among the various genetic disorders, Glutaric Acidemia Type 2C, caused by mutations in the ETFDH gene, is a condition that can have significant health implications. DNA Labs UAE is at the forefront of providing comprehensive genetic […]
Symptoms and Testing information for CTSA Gene Galactosialidosis Genetic Test
Galactosialidosis is a rare genetic disorder that affects multiple organ systems within the body. It is caused by mutations in the CTSA gene, which leads to a deficiency of the protective lysosomal enzyme, cathepsin A. This enzyme deficiency results in the accumulation of certain complex compounds in the body’s cells, leading to the symptoms associated […]
Symptoms and Testing information for SUGCT Gene Glutaric aciduria type 3 Genetic Test
Genetic testing has become a cornerstone in the diagnosis and management of various inherited disorders. One such condition that has garnered attention is Glutaric aciduria type 3, linked to mutations in the SUGCT gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including for Glutaric aciduria type 3. This article […]
Symptoms and Testing information for XRCC2 Gene Fanconi anemia XRCCR2 related Genetic Test
In the realm of genetic diagnostics and personalized medicine, understanding the intricacies of our genetic makeup is more important than ever. Among the myriad of genetic conditions that researchers and clinicians are keen to unravel, Fanconi Anemia stands out, particularly its rare variant associated with mutations in the XRCC2 gene. DNA Labs UAE, a leading […]