Understanding Biotinidase Deficiency Biotinidase deficiency is a rare genetic disorder that prevents the body from releasing free biotin, a vital vitamin (B7) necessary for the healthy functioning of several bodily processes. This condition can lead to a variety of health issues if left undiagnosed or untreated. Biotin plays a crucial role in converting certain nutrients […]
Metabolic Disorders
Symptoms and Testing information for HSD11B2 Gene Apparent mineralocorticoid excess Genetic Test
Understanding the symptoms associated with the HSD11B2 gene mutation is crucial for those who may be at risk of Apparent Mineralocorticoid Excess (AME). This rare genetic condition can have significant impacts on an individual’s health, making early diagnosis and intervention key. DNA Labs UAE offers a comprehensive genetic test for the HSD11B2 gene, providing individuals […]
Symptoms and Testing information for ARG1 Gene Arginase deficiency Genetic Test
Symptoms of ARG1 Gene Arginase Deficiency Genetic Test The ARG1 gene plays a crucial role in the urea cycle, a series of biochemical processes in the liver that help remove ammonia from the bloodstream. Ammonia is a toxic byproduct of protein metabolism, and its accumulation in the body can lead to serious health issues. Arginase […]
Symptoms and Testing information for GATM Gene Arginine-glycine amidinotransferase deficiency Genetic Test
In the realm of genetic testing and diagnosis, understanding the intricacies of various genetic conditions is paramount for effective treatment and management. One such condition that has garnered attention is the deficiency related to the GATM gene, known for its role in the arginine-glycine amidinotransferase enzyme. This deficiency can lead to a range of symptoms […]
Symptoms and Testing information for ASL Gene Argininosuccinic aciduria Genetic Test
Argininosuccinic aciduria is a rare but serious inherited disorder that affects the body’s ability to properly process certain proteins. This condition is part of a group of disorders known as urea cycle disorders, which can lead to a buildup of ammonia in the bloodstream. Early diagnosis and treatment are crucial for managing symptoms and preventing […]
Symptoms and Testing information for DDC Gene Aromatic L-amino acid decarboxylase deficiency AADC Genetic Test
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that affects the way signals are passed between cells in the nervous system. This condition is caused by mutations in the DDC gene, which leads to a deficiency in the AADC enzyme. This enzyme is crucial for the synthesis of neurotransmitters such as dopamine […]
Symptoms and Testing information for ASNS Gene Asparaginesynthetase deficiency Genetic Test
Understanding the complexities of genetic conditions is crucial in the medical field today. One such condition that has garnered attention is the deficiency related to the ASNS gene, known as Asparagine Synthetase Deficiency. This condition, while rare, can lead to significant health complications if not diagnosed and managed properly. DNA Labs UAE is at the […]
Symptoms and Testing information for AGA Gene Aspartylglucosaminuria Genetic Test
Aspartylglucosaminuria (AGA) is a rare genetic disorder that affects the body’s ability to break down certain types of sugars and proteins. This condition, caused by mutations in the AGA gene, leads to the accumulation of harmful substances in the body, which can affect various organs and tissues, particularly the brain and nervous system. Recognizing the […]
Symptoms and Testing information for ST6GAL2 Gene Beta-Galactosamide alpha-26-Sialyltransferase 2 deficiency Genetic Test
In the realm of genetic diagnostics, understanding the implications of specific gene deficiencies is paramount for early detection and management of potential health issues. One such genetic condition that has garnered attention is the deficiency of the ST6GAL2 gene, known for encoding the enzyme Beta-Galactosamide alpha-2,6-Sialyltransferase 2. This enzyme plays a crucial role in the […]
Symptoms and Testing information for ACADS Gene Acyl-CoA Short-Chain Dehydrogenase Deficiency Genetic Test
Symptoms of ACADS Gene Acyl-CoA Short-Chain Dehydrogenase Deficiency Acyl-CoA Short-Chain Dehydrogenase Deficiency (ACADSD) is a rare genetic disorder that affects the body’s ability to break down certain fats into energy, particularly during periods of fasting. This condition is caused by mutations in the ACADS gene, which plays a critical role in the metabolism of short-chain […]