Symptoms and Testing information for GATA4 Gene Atrioventricular Septal Defect Type 4 Genetic Test

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

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

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

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

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

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

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

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 […]

Symptoms and Testing information for GPD1L Gene Brugada Syndrome Type 2 Genetic Test

Symptoms and Testing information for GPD1L Gene Brugada Syndrome Type 2 Genetic Test

Brugada Syndrome is a potentially life-threatening heart rhythm disorder that is sometimes inherited. It can lead to sudden cardiac arrest, often in young and otherwise healthy individuals. A specific genetic variation associated with this condition is found in the GPD1L gene, leading to what is known as Brugada Syndrome Type 2. DNA Labs UAE offers […]

Symptoms and Testing information for CACNA1C Gene Brugada Syndrome Type 3 Genetic Test

Symptoms and Testing information for CACNA1C Gene Brugada Syndrome Type 3 Genetic Test

Symptoms of CACNA1C Gene Brugada Syndrome Type 3 Brugada Syndrome is a rare but serious condition that affects the heart’s rhythm. It is a genetic disorder, meaning it is passed down through families. One of the genes associated with this condition is the CACNA1C gene, which, when mutated, can lead to Brugada Syndrome Type 3. […]

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