In the realm of genetic testing, advancements have paved the way for the identification and understanding of various genetic disorders, one of which is Fructosuria. Caused by a deficiency in the enzyme fructokinase, due to mutations in the KHK gene, this condition is often underdiagnosed or misdiagnosed due to its benign nature and the lack […]
Metabolic Disorders
Symptoms and Testing information for FUCA1 Gene Fucosidosis Genetic Test
Fucosidosis is a rare genetic disorder that stems from the deficiency of the enzyme alpha-L-fucosidase, which is crucial for the breakdown of certain complex molecules in the body. This deficiency leads to an accumulation of these molecules in various tissues, affecting normal bodily functions. The FUCA1 gene, responsible for encoding the enzyme alpha-L-fucosidase, is at […]
Symptoms and Testing information for FANCI Gene Fanconi anemia type I Genetic Test
Fanconi anemia is a rare genetic disorder that affects the bone marrow, leading to decreased production of all types of blood cells. Among the genes associated with this condition, the FANCI gene plays a crucial role. Mutations in the FANCI gene can lead to Fanconi anemia type I, characterized by physical abnormalities, bone marrow failure, […]
Symptoms and Testing information for FH Gene Fumarase deficiency Genetic Test
Fumarase deficiency, also known as Fumaric Aciduria, is a rare genetic disorder that affects the mitochondrial function, leading to a range of physical and developmental challenges. This condition is caused by mutations in the FH gene, which plays a crucial role in the Krebs cycle, a key energy-producing process in cells. Recognizing the symptoms of […]
Symptoms and Testing information for BRIP1 Gene Fanconi anemia type J Genetic Test
At DNA Labs UAE, we are committed to providing advanced genetic testing services to help individuals and families understand their genetic health. One of the critical tests we offer is for the BRIP1 gene, associated with Fanconi anemia type J. This article aims to provide comprehensive information on the symptoms of this condition and details […]
Symptoms and Testing information for ABAT Gene GABA-transaminase deficiency Genetic Test
Symptoms of ABAT Gene GABA-Transaminase Deficiency Genetic Test GABA-transaminase deficiency, caused by mutations in the ABAT gene, is a rare genetic disorder that impacts the central nervous system. The ABAT gene plays a critical role in the metabolism of gamma-aminobutyric acid (GABA), an important neurotransmitter in the brain responsible for reducing neuronal excitability. Mutations in […]
Symptoms and Testing information for FANCL Gene Fanconi anemia type L Genetic Test
Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. It is caused by genetic mutations that affect a person’s DNA repair mechanism, making the cells more prone to damage and leading to various physical and developmental abnormalities. Among the genes implicated in this condition, the FANCL gene is responsible […]
Symptoms and Testing information for GALK1 Gene Galactokinase deficiency Genetic Test
In the intricate world of genetics, understanding the nuances of various genetic conditions is pivotal for early diagnosis and management. One such condition that has garnered attention in the medical community is Galactokinase deficiency, caused by mutations in the GALK1 gene. This article aims to shed light on the symptoms associated with this genetic disorder […]
Symptoms and Testing information for FANCM Gene Fanconi anemia type M Genetic Test
Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. Among the genes associated with this condition, the FANCM gene is noteworthy for its role in DNA repair. Individuals carrying mutations in the FANCM gene can develop Fanconi anemia type M, a specific subtype of the disease. DNA Labs UAE […]
Symptoms and Testing information for GALE Gene Galactose epimerase deficiency Genetic Test
— Galactose epimerase deficiency is a rare genetic disorder that affects how the body processes the simple sugar galactose, which is found in many foods, most notably dairy products. This condition falls under the umbrella of galactosemia, which encompasses several genetic disorders involving the metabolism of galactose. The GALE gene is responsible for producing the […]