Symptoms of SLC20A2 Gene Basal Ganglia Calcification Type 1 Ideopathic Genetic Test The SLC20A2 gene plays a pivotal role in phosphate regulation within the human body, and mutations in this gene can lead to Basal Ganglia Calcification Type 1, also known as Idiopathic Basal Ganglia Calcification (IBGC1) or Fahr’s Disease. This condition is characterized by […]
Dysmorphology Diseases
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 […]
Symptoms and Testing information for NKX2-5 Gene Atrial Septal Defect with Atrioventricular Conduction Defects Genetic Test
At DNA Labs UAE, we specialize in a broad spectrum of genetic testing services, including the comprehensive analysis of the NKX2-5 gene, which is crucial for individuals at risk of Atrial Septal Defect (ASD) with Atrioventricular Conduction Defects. This particular genetic test is pivotal for early detection, diagnosis, and management of these cardiac anomalies, which […]
Symptoms and Testing information for NPR2 Gene Acromesomelic Dysplasia Maroteaux Type Genetic Test
In the realm of genetic testing, advancements have led to the identification and understanding of various genetic disorders that were once shrouded in mystery. One such condition is Acromesomelic Dysplasia, Maroteaux Type, a rare form of dwarfism caused by mutations in the NPR2 gene. This disorder is characterized by severe shortening of the bones in […]
Symptoms and Testing information for CRELD1 Gene Atrioventricular Septal Defect Partial with Heterotaxy Syndrome Genetic Test
Understanding the complexities of genetic conditions is essential for early diagnosis and management. One such condition that has garnered attention is the CRELD1 gene-related atrioventricular septal defect partial with heterotaxy syndrome. This condition is a congenital heart defect that is often diagnosed in infancy or early childhood. In this article, we will delve into the […]