Alpha-Thalassemia/Mental Retardation Syndrome (ATR-X) is a rare genetic condition that affects many parts of the body. This condition, which occurs almost exclusively in males, is characterized by alpha-thalassemia, developmental delays, intellectual disability, and distinctive facial features. Understanding the symptoms of ATR-X syndrome is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive […]
Dysmorphology Diseases
Symptoms and Testing information for TP63 Gene Ankyloblepharon-Ectodermal Defects-Cleft Lippalate Genetic Test
In the realm of genetic diagnostics, understanding the complexities of various syndromes is crucial for early intervention and management. One such complex condition involves the TP63 gene, which has been linked to Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. This rare genetic disorder presents a variety of symptoms that can significantly impact an individual’s quality of life. […]
Symptoms and Testing information for PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test
Symptoms of PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Anterior Segment Mesenchymal Dysgenesis (ASMD) is a rare genetic disorder that affects the development of the eyes, leading to various ocular abnormalities. This condition is primarily associated with mutations in the PITX3 gene. Understanding the symptoms of ASMD is crucial for early diagnosis and management of the […]
Symptoms and Testing information for FGFR2 Gene Antley-Bixler Syndrome Genetic Test
Antley-Bixler Syndrome, a rare genetic disorder, is characterized by numerous skeletal abnormalities that are often present at birth. This condition is primarily associated with mutations in the FGFR2 gene, which plays a crucial role in early bone development and growth. Recognizing the symptoms early can be vital for managing the condition effectively. DNA Labs UAE […]
Symptoms and Testing information for FGFR2 Gene Apert Syndrome Genetic Test
Symptoms of FGFR2 Gene Apert Syndrome Genetic Test Apert Syndrome is a genetic disorder that results from the mutation of the FGFR2 (Fibroblast Growth Factor Receptor 2) gene. This rare condition is characterized by the premature fusion of certain skull bones (craniosynostosis), which affects the shape of the head and face. Additionally, individuals with Apert […]
Symptoms and Testing information for COL2A1 Gene Achondrogenesis Type 2 Genetic Test
Achondrogenesis Type 2, caused by mutations in the COL2A1 gene, is a rare genetic disorder that significantly impacts skeletal development. This condition is part of a group of disorders known as chondrodysplasias, which affect the cartilage and bone. The COL2A1 gene is crucial for the production of a specific type of collagen (type II collagen) […]
Symptoms and Testing information for HOXA1 Gene Athabaskan Brainstem Dysgenesis Syndrome Genetic Test
HOXA1 Gene Athabaskan Brainstem Dysgenesis Syndrome is a rare genetic condition that has captured the attention of medical researchers and healthcare professionals worldwide. This condition, which stems from mutations in the HOXA1 gene, affects the development of the brainstem and cranial nerves, leading to a range of developmental and neurological challenges. DNA Labs UAE is […]
Symptoms and Testing information for PRKAR1A Gene Acrodysostosis Type 1 with or Without Hormone Resistance Genetic Test
Acrodysostosis Type 1 is a rare genetic disorder that affects bone growth and hormonal regulation. This condition is primarily caused by mutations in the PRKAR1A gene. Individuals affected by this condition often exhibit a wide range of symptoms that can significantly impact their quality of life. Understanding these symptoms is crucial for early diagnosis and […]
Symptoms and Testing information for GATA4 Gene Atrial Septal Defect Type 2 Genetic Test
Atrial Septal Defect (ASD) Type 2 is a congenital heart defect characterized by a hole in the wall that divides the upper chambers of the heart. This condition can lead to a range of symptoms and complications if left untreated. Advances in genetic testing have made it possible to identify the GATA4 gene mutation associated […]
Symptoms and Testing information for ZSWIM6 Gene Acromelic Frontonasal Dysostosis Genetic Test
— Acromelic Frontonasal Dysostosis (AFND) is a rare genetic disorder that affects the development of the head, face, and limbs. This condition is characterized by a range of physical anomalies, including craniofacial, limb, and brain abnormalities. Recent studies have identified mutations in the ZSWIM6 gene as a significant cause of AFND. DNA Labs UAE offers […]