Understanding the nuances of genetic conditions is crucial for early diagnosis and management. Among these conditions, the GATA6 gene mutation leading to Atrial Septal Defect Type 9 (ASD9) is significant. DNA Labs UAE stands at the forefront of genetic testing, offering comprehensive services to detect such conditions. This article delves into the symptoms associated with […]
Pneumology Diseases
Symptoms and Testing information for FLNA Gene Cardiac Valvular Dysplesia X-Linked Genetic Test
The FLNA gene plays a crucial role in the human body, coding for the protein filamin A, which is involved in cell structure, movement, and signaling. Mutations in the FLNA gene can lead to a variety of conditions, one of which is Cardiac Valvular Dysplasia, an X-linked genetic disorder. This condition primarily affects the heart’s […]
Symptoms and Testing information for GATA4 Gene Atrioventricular Septal Defect Type 4 Genetic Test
Understanding the intricacies of genetic conditions is essential for early diagnosis and effective treatment. Among these, the GATA4 gene mutation stands out due to its significant role in causing Atrioventricular Septal Defect Type 4 (AVSD4). This condition is a congenital heart defect characterized by a combination of heart problems affecting the atria and ventricles. DNA […]
Symptoms and Testing information for SCO2 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Genetic Test
Cardioencephalomyopathy due to cytochrome c oxidase deficiency, particularly related to mutations in the SCO2 gene, is a rare and often fatal condition that affects infants. This genetic disorder disrupts the normal functioning of mitochondria, the powerhouses of cells, leading to severe symptoms in affected individuals. Understanding the symptoms and the importance of early genetic testing […]
Symptoms and Testing information for GATA6 Gene Atrioventricular Septal Defect Type 5 Genetic Test
Understanding the intricacies of genetic conditions is crucial for early diagnosis and effective management. Among these conditions, the Atrioventricular Septal Defect (AVSD) stands out due to its impact on the heart’s structure and function. Specifically, mutations in the GATA6 gene have been linked to AVSD Type 5, a condition that necessitates prompt and accurate diagnosis […]
Symptoms and Testing information for COX15 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 2 Genetic Test
Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 2 is a rare genetic condition that affects infants, leading to severe health complications and often results in fatality. This condition is caused by mutations in the COX15 gene, which plays a crucial role in the assembly of cytochrome c oxidase, an essential component of […]
Symptoms and Testing information for TAZ Gene Barth Syndrome Genetic Test
Barth syndrome is a rare genetic disorder that primarily affects males. It is caused by mutations in the TAZ gene, which is responsible for encoding a protein involved in the remodeling of cardiolipin, a crucial lipid for the proper function of mitochondria. The disorder is characterized by a wide range of symptoms that can significantly […]
Symptoms and Testing information for COA5 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 3 Genetic Test
Understanding COA5 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 3 Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency type 3, caused by mutations in the COA5 gene, is a rare and severe condition that primarily affects infants. This genetic disorder disrupts the normal function of mitochondria, the energy-producing structures within […]
Symptoms and Testing information for TIMP1 Gene Bicuspid Aortic Valve Genetic Test
Understanding the genetic underpinnings of heart conditions can significantly impact the approach to prevention, diagnosis, and treatment. Among these conditions, the Bicuspid Aortic Valve (BAV) disorder stands out due to its prevalence and potential complications. Recent advancements in genetic testing, particularly concerning the TIMP1 gene, have paved the way for early detection and management strategies. […]
Symptoms and Testing information for SCN5A Gene Brugada Syndrome Type 1 Genetic Test
Understanding the nuances and implications of genetic conditions is essential for both medical professionals and patients. One such condition that has garnered attention is Brugada Syndrome Type 1, a disorder that affects the heart’s rhythm. It’s crucial to recognize the symptoms of this condition early on, as it can lead to serious heart complications, including […]