Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing of the internal carotid arteries and their branches, leading to the development of tiny, fragile blood vessels which can easily rupture. Type 5 Moyamoya disease, associated with mutations in the ACTA2 gene, is a particular form of this condition that not only affects […]
Pneumology Diseases
Symptoms and Testing information for ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome Genetic Test
ACTA2 gene multisystemic smooth muscle dysfunction syndrome is a rare genetic disorder that affects the smooth muscles throughout the body. This condition is caused by mutations in the ACTA2 gene, which plays a crucial role in the contraction and function of smooth muscle cells. These mutations lead to a wide range of symptoms and complications, […]
Symptoms and Testing information for MT-TQ Gene Myopathy MT-TQ related Genetic Test
Myopathy refers to a group of diseases that affect the muscle fibers, leading to weakness, cramps, stiffness, and even spasms. One specific form of myopathy is linked to mutations in the mitochondrial transfer RNA (tRNA) genes, including the MT-TQ gene. This article delves into the symptoms associated with MT-TQ gene myopathy and the importance of […]
Symptoms and Testing information for GATA6 Gene Pancreatic agenesis and congenital heart defects Genetic Test
The GATA6 gene is crucial for the development of various organs in the body, including the pancreas and heart. Mutations in this gene can lead to pancreatic agenesis and congenital heart defects, conditions that are both serious and potentially life-threatening. Understanding the symptoms associated with these conditions and the importance of genetic testing can be […]
Symptoms and Testing information for MKKS Gene McKusick-Kaufman syndrome Genetic Test
McKusick-Kaufman syndrome (MKKS), also known as Kaufman-McKusick syndrome, is a rare genetic disorder that affects multiple systems of the body. This condition is inherited in an autosomal recessive pattern, meaning that an individual must receive a defective gene from each parent to be affected. The MKKS gene, which plays a crucial role in the development […]
Symptoms and Testing information for TRPM4 Gene Progressive familial heart block Genetic Test
In the realm of genetic testing, advancements have paved the way for early detection and intervention in numerous hereditary conditions. Among these, the TRPM4 gene-related progressive familial heart block stands out due to its critical impact on cardiac health. DNA Labs UAE is at the forefront of this pioneering field, offering a comprehensive genetic test […]
Symptoms and Testing information for MT-TC Gene MELAS syndrome Genetic Test
At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help individuals and families understand their genetic makeup and potential health risks. One of the critical tests we offer is for the MT-TC Gene MELAS Syndrome. This condition, which stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes, is a rare […]
Symptoms and Testing information for SFTPA1 Gene Pulmonary fibrosis idiopathic Genetic Test
In the realm of genetic testing and diagnosis, understanding the intricacies of specific genes and their associated conditions is crucial for both patients and healthcare providers. One such condition that has garnered attention is Idiopathic Pulmonary Fibrosis (IPF), a chronic and ultimately fatal disease characterized by a progressive decline in lung function. The SFTPA1 gene […]
Symptoms and Testing information for MT-TF Gene MELAS syndrome Genetic Test
MELAS syndrome, which stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes, is a complex genetic condition that affects various systems of the body, particularly the nervous system and muscles. It is caused by mutations in mitochondrial DNA, specifically in the MT-TF gene. Understanding the symptoms of MELAS syndrome is crucial for early diagnosis and […]
Symptoms and Testing information for CRHR1 Gene Pulmonary newborn hypertension Genetic Test
Pulmonary hypertension in newborns, also known as neonatal pulmonary hypertension, is a serious and potentially life-threatening condition characterized by high blood pressure in the lungs’ arteries. This condition can significantly impact the oxygenation of the newborn’s body, leading to critical health issues. Recent advancements in genetic research have identified a connection between the CRHR1 gene […]