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Symptoms and Testing information for GFM1 Gene Combined oxidative phosphorylation deficiency type 1 Genetic Test

Symptoms and Testing information for GFM1 Gene Combined oxidative phosphorylation deficiency type 1 Genetic Test

In the realm of genetic testing, advancements have enabled us to diagnose and understand a plethora of genetic disorders that were once mysteries. Among these, the GFM1 gene mutation, responsible for combined oxidative phosphorylation deficiency type 1, is a condition that has gained attention for its complex presentation and the critical need for early diagnosis. […]

Symptoms and Testing information for ACSF3 Gene Combined malonic and methylmalonic aciduria Genetic Test

Symptoms and Testing information for ACSF3 Gene Combined malonic and methylmalonic aciduria Genetic Test

Genetic testing has revolutionized the way we understand and approach healthcare, offering insights into inherited diseases and conditions that were previously elusive. Among the various genetic tests available, the ACSF3 Gene Combined Malonic and Methylmalonic Aciduria Genetic Test stands out for its importance in diagnosing a rare but significant metabolic disorder. This test, offered by […]

Symptoms and Testing information for SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria Genetic Test

Symptoms and Testing information for SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria Genetic Test

Understanding the complexities of genetic conditions is crucial for early diagnosis and treatment. Among these conditions is a rare disorder associated with the SLC25A1 gene, known as Combined D-2- and L-2-hydroxyglutaric aciduria. This condition, though rare, can have significant impacts on an individual’s health if not diagnosed and managed properly. DNA Labs UAE offers a […]

Symptoms and Testing information for ABCB1 Gene Colchicine resistance Genetic Test

Symptoms and Testing information for ABCB1 Gene Colchicine resistance Genetic Test

Understanding the ABCB1 Gene and Its Implications on Colchicine Resistance Colchicine is a medication commonly used in the treatment of gout and certain other medical conditions. However, not all patients respond to colchicine treatment effectively. This variability in response can often be attributed to genetic factors, particularly the ABCB1 gene. The ABCB1 gene encodes for […]

Symptoms and Testing information for COQ4 Gene Coenzyme Q10 deficiency type 7 Genetic Test

Symptoms and Testing information for COQ4 Gene Coenzyme Q10 deficiency type 7 Genetic Test

Coenzyme Q10 (CoQ10) deficiency is a rare genetic condition that affects the body’s ability to produce energy. One specific form of this deficiency is linked to mutations in the COQ4 gene, leading to what is known as Coenzyme Q10 deficiency type 7. This condition can have significant health implications, affecting various systems within the body. […]

Symptoms and Testing information for COQ6 Gene Coenzyme Q10 deficiency type 6 Genetic Test

Symptoms and Testing information for COQ6 Gene Coenzyme Q10 deficiency type 6 Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide insights into various genetic conditions. Among these, the COQ6 gene Coenzyme Q10 deficiency type 6 genetic test stands out for its importance in diagnosing a rare but significant condition that affects cellular energy production. […]

Symptoms and Testing information for ASS1 Gene Citrullinemia Genetic Test

Symptoms and Testing information for ASS1 Gene Citrullinemia Genetic Test

Citrullinemia is a rare genetic disorder that affects the body’s ability to remove ammonia from the bloodstream. This condition is caused by mutations in the ASS1 gene, which plays a crucial role in the urea cycle. The urea cycle is a series of chemical reactions in the liver that convert ammonia, a toxic byproduct of […]

Symptoms and Testing information for SLC25A13 Gene Citrin deficiency Genetic Test

Symptoms and Testing information for SLC25A13 Gene Citrin deficiency Genetic Test

Symptoms of SLC25A13 Gene Citrin Deficiency Genetic Test The SLC25A13 gene, also known as citrin, plays a crucial role in the body’s metabolic processes. Citrin deficiency, resulting from mutations in the SLC25A13 gene, can lead to a range of health issues, which vary in severity and onset age. Recognizing the symptoms of citrin deficiency is […]

Symptoms and Testing information for SAR1B Gene Chylomicron retention disease Genetic Test

Symptoms and Testing information for SAR1B Gene Chylomicron retention disease Genetic Test

Chylomicron retention disease, also known as Anderson’s disease or Hypobetalipoproteinemia Type 1, is a rare genetic disorder that affects the body’s ability to absorb fats and certain vitamins from the diet. This condition is caused by mutations in the SAR1B gene, which plays a crucial role in the assembly and secretion of chylomicrons, particles that […]

Symptoms and Testing information for LIPA Gene Cholesteryl ester storage disease Genetic Test

Symptoms and Testing information for LIPA Gene Cholesteryl ester storage disease Genetic Test

Cholesteryl ester storage disease (CESD) is a rare genetic disorder that affects the body’s ability to break down cholesterol and triglycerides. This condition is caused by mutations in the LIPA gene, which plays a crucial role in the lysosomal degradation of lipids. Individuals with CESD accumulate large amounts of cholesteryl esters and triglycerides in various […]

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