Left ventricular noncompaction 1 (LVNC1), with or without congenital heart defects, is a rare and complex genetic condition that affects the structure of the heart. This condition is characterized by the failure of the heart’s muscular wall (myocardium) to undergo the normal developmental process of compaction. The result is a heart with a spongy, noncompacted […]
In the realm of genetic testing, understanding the implications and symptoms of specific gene mutations is paramount for both patients and healthcare providers. The KCNE1 gene, associated with Jervell and Lange-Nielsen syndrome type 2, is a critical area of study. This rare condition, inherited in an autosomal recessive pattern, affects the heart’s electrical activity and […]
Understanding Jervell and Lange-Nielsen Syndrome Type 1 Jervell and Lange-Nielsen Syndrome (JLNS) Type 1 is a rare genetic disorder that significantly impacts the heart’s rhythm. This condition is characterized by profound bilateral sensorineural hearing loss and long QT syndrome, which can lead to arrhythmias and sudden death. The syndrome is caused by mutations in the […]
Heart-hand syndrome, Slovenian type, is a rare genetic disorder characterized by a unique combination of heart disease and deformities in the limbs, particularly the hands. This condition is caused by mutations in the LMNA gene, which plays a crucial role in maintaining the structural integrity of cells in the body. Recognizing the symptoms of this […]
Understanding the nuances of genetic conditions is crucial in providing targeted and effective healthcare. Among the myriad of genetic conditions that have a profound impact on the human body, heart-related genetic conditions hold a significant place due to their critical nature. One such condition is the heart block progressive familial type 1A, which is linked […]
Symptoms of SCN1B Gene Familial Atrial Fibrillation Type 13 Genetic Test Familial Atrial Fibrillation (FAF) is a type of heart disorder characterized by an irregular and often rapid heart rate that can increase the risk of strokes, heart failure, and other heart-related complications. Among the genetic factors contributing to this condition, mutations in the SCN1B […]
Understanding DBH Gene Dopamine beta-hydroxylase (DBH) Deficiency Dopamine beta-hydroxylase (DBH) deficiency is a rare genetic disorder that affects the autonomic nervous system by disrupting the production of the enzyme dopamine beta-hydroxylase. This enzyme is crucial for the synthesis of norepinephrine from dopamine, a key step in the catecholamine pathway that is essential for the proper […]
Understanding DSP Gene Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis Dilated Cardiomyopathy (DCM) is a condition characterized by the dilation of the heart’s ventricles and impaired systolic function, leading to heart failure and arrhythmias. When associated with mutations in the Desmoplakin (DSP) gene, this condition can manifest alongside distinctive physical traits, such as […]
Diaphragmatic hernia is a serious condition that can affect newborns, leading to significant respiratory distress and requiring immediate medical attention. Among the genetic factors contributing to this condition, mutations in the ZFPM2 gene have been identified as a cause of Diaphragmatic Hernia Type 3. DNA Labs UAE offers a comprehensive genetic test specifically designed to […]
— Danon Disease is a rare genetic disorder characterized by a spectrum of symptoms ranging from cardiac issues to skeletal muscle weakness and intellectual disability. The condition is caused by mutations in the LAMP2 gene, which plays a crucial role in the autophagy process, a system within the body for disposing of damaged or unnecessary […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
