Dysmorphology Diseases

Hennekam Lymphangiectasia-Lymphedema Syndrome Type 2, caused by mutations in the FAT4 gene, is a rare genetic disorder that affects the development of the lymphatic system. This condition leads to a wide range of symptoms and complications, primarily involving lymphatic anomalies, which can significantly impact an individual’s quality of life. Understanding the symptoms and getting a […]

Symptoms of KAT6B Gene Genitopatellar Syndrome Genetic Test Genitopatellar Syndrome is a rare genetic disorder that is caused by mutations in the KAT6B gene. This condition is characterized by a wide range of symptoms that can vary significantly from one individual to another. Recognizing these symptoms is crucial for early diagnosis and management of the […]

Symptoms of SATB2 Gene Glass Syndrome Genetic Test The SATB2 gene plays a crucial role in human development, influencing the structure and function of various organs and systems. Mutations in the SATB2 gene can lead to SATB2-associated syndrome (SAS), also known as Glass syndrome, a condition characterized by a range of physical, developmental, and neurological […]

Goldberg-Shprintzen Megacolon Syndrome is a rare genetic disorder that poses significant health challenges to those affected. This condition is characterized by a combination of congenital anomalies including Hirschsprung’s disease (a disorder affecting the colon), intellectual disabilities, and various craniofacial anomalies. The identification of the KIF1BP gene’s involvement has opened new avenues for diagnosis and understanding […]

In the realm of genetic testing and diagnostics, the BCS1L gene GRACILE syndrome genetic test stands out as a pivotal assessment for identifying a rare but serious genetic disorder. GRACILE syndrome, an acronym for Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death, is caused by mutations in the BCS1L gene. This article […]

Greenberg Skeletal Dysplasia, also known as Greenberg Dysplasia or HEM skeletal dysplasia, is a rare and severe genetic disorder. This condition is characterized by various skeletal abnormalities that are present at birth. Caused by mutations in the LBR gene, this disorder has significant implications for the development of the bones and cartilage. Understanding the symptoms […]

Symptoms of GLI3 Gene Greig Cephalopolysyndactyly Syndrome Genetic Test Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder that affects the development of the limbs, head, and face. The condition is primarily caused by mutations in the GLI3 gene, which plays a crucial role in regulating the growth and development of these body parts. Recognizing […]

Understanding the complexities of genetic conditions is essential for early diagnosis and appropriate management. One such rare genetic disorder is characterized by fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly, which involves mutations in the WNT7A gene. This condition, while rare, presents a unique set of symptoms that can significantly impact an […]

In the quest to understand the complexities of human genetics and its implications on health, DNA Labs UAE has emerged as a leader, providing comprehensive genetic testing services to help individuals and healthcare professionals make informed decisions. Among its suite of tests, the GHR Gene Growth Hormone Insensitivity Partial Genetic Test stands out for its […]

Symptoms of POLE Gene FILS Syndrome Genetic Test POLE gene FILS syndrome is a rare genetic disorder that has garnered significant attention within the medical community for its complex presentation and the critical need for accurate diagnosis. DNA Labs UAE stands at the forefront of genetic testing, offering a comprehensive solution for families seeking answers. […]