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Symptoms and Testing information for PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease Genetic Test

Central hypoventilation syndrome (CHS), also known as congenital central hypoventilation syndrome (CCHS), is a rare genetic disorder that affects the autonomic control of breathing. It’s characterized by the failure of the automatic control of breathing, especially during sleep, leading to inadequate ventilation and an increased level of carbon dioxide in the blood. The PHOX2B gene

Symptoms and Testing information for GATA5 Gene Congenital heart defects multiple types Genetic Test

Understanding congenital heart defects (CHDs) is crucial for early diagnosis and treatment. Among the genes linked to CHDs, the GATA5 gene plays a significant role. Mutations in this gene can lead to multiple types of congenital heart defects, impacting the health and well-being of affected individuals from a very early age. DNA Labs UAE offers

Symptoms and Testing information for TAB2 Gene Congenital heart defects multiple types Genetic Test

Understanding TAB2 Gene Congenital Heart Defects Congenital heart defects are among the most common birth defects, affecting millions of babies worldwide. These defects can range from mild conditions that may cause no symptoms to severe malformations that require immediate medical attention. Recent advances in genetics have identified the TAB2 gene as a critical factor in

Symptoms and Testing information for ZFPM2 Gene Diaphragmatic hernia type 3 Genetic Test

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

Symptoms and Testing information for KRAS Gene Cardiofaciocutaneous Syndrome Genetic Test

Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition that affects various parts of the body, including the heart (cardio-), face (facio-), and skin (cutaneous). It is caused by mutations in several genes, including the KRAS gene. Understanding the symptoms of this syndrome is crucial for early diagnosis and treatment. DNA Labs UAE offers a comprehensive

Symptoms and Testing information for MAP2K1 Gene Cardiofaciocutaneous Syndrome Type 3 Genetic Test

Symptoms of MAP2K1 Gene Cardiofaciocutaneous Syndrome Type 3 Genetic Test Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition that affects various parts of the body, including the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). Among the genes associated with this condition, mutations in the MAP2K1 gene lead to the specific subtype

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 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 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 FOXF1 Gene Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Genetic Test

Symptoms of FOXF1 Gene Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Genetic Test Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV) is a rare and severe lung disorder that affects infants shortly after birth. This condition is characterized by abnormal development of the lungs, specifically affecting the alveoli and the capillaries, leading to