Understanding the complexities of genetic conditions is crucial for early diagnosis and management. Among these, the COL2A1 gene mutation, responsible for Spondyloepiphyseal Dysplasia (SED) Congenita, is a significant concern for many. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the COL2A1 Gene SED Congenita Genetic Test, to help identify […]
Dysmorphology Diseases
Symptoms and Testing information for RDH11 Gene Retinal Dystrophy Juvenile Cataracts and Short Stature Syndrome Genetic Test
Symptoms of RDH11 Gene Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome The RDH11 gene plays a critical role in the visual cycle and overall development, mutations in which can lead to a complex syndrome characterized by retinal dystrophy, juvenile cataracts, and short stature. Understanding the symptoms associated with this genetic condition is crucial for […]
Symptoms and Testing information for TWIST1 Gene Saethre-Chotzen Syndrome Genetic Test
Saethre-Chotzen Syndrome (SCS) is a congenital condition characterized by craniosynostosis, which is the premature fusion of skull bones, leading to abnormalities in the shape of the head and face. This condition is caused by mutations in the TWIST1 gene, and understanding the symptoms can be crucial for early diagnosis and treatment. DNA Labs UAE offers […]
Symptoms and Testing information for MECP2 Gene Rett Syndrome Genetic Test
Rett Syndrome is a rare, severe neurological disorder that predominantly affects females. It leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The key to understanding this complex condition lies in the genetics, specifically mutations in the MECP2 gene. Recognizing the symptoms […]
Symptoms and Testing information for ESCO2 Gene SC Phocomelia Syndrome Genetic Test
Phocomelia Syndrome, also known as Roberts Syndrome (RBS) or SC Phocomelia Syndrome, is a rare genetic disorder characterized by severe prenatal and postnatal growth retardation, limb deficiencies, and facial anomalies. The syndrome is caused by mutations in the ESCO2 gene, which plays a crucial role in the cohesion of sister chromatids during cell division. Due […]
Symptoms and Testing information for FOXG1 Gene Rett Syndrome Congenital Variant Genetic Test
The FOXG1 gene plays a crucial role in the development and function of the brain. Mutations in this gene can lead to a congenital variant of Rett syndrome, a complex neurological disorder that predominantly affects females. Understanding the symptoms of this condition is vital for early diagnosis and intervention. At DNA Labs UAE, we offer […]
Symptoms and Testing information for FGFR2 Gene Scaphocephaly Maxillary Retrusion and Mental Retardation Genetic Test
Understanding the complex nature of genetic disorders is pivotal for early diagnosis and effective management. Among these, a condition linked to mutations in the FGFR2 gene is of significant interest to medical researchers and clinicians. This condition is characterized by a unique combination of symptoms, including scaphocephaly, maxillary retrusion, and mental retardation. Recognizing these symptoms […]
Symptoms and Testing information for GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test
— Rhizomelic Chondrodysplasia Punctata (RCDP) Type 2 is a rare genetic disorder that affects multiple systems within the body, including skeletal development, vision, and respiratory function. This condition is caused by mutations in the GNPAT gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive […]
Symptoms and Testing information for MAGEL2 Gene Schaaf-Yang Syndrome Genetic Test
Symptoms of MAGEL2 Gene Schaaf-Yang Syndrome Genetic Test Schaaf-Yang syndrome is a complex genetic disorder that affects many parts of the body and is caused by mutations in the MAGEL2 gene. Recognizing the symptoms early on can significantly impact the management and treatment of the condition. DNA Labs UAE offers a comprehensive genetic test for […]
Symptoms and Testing information for AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 Genetic Test
— Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3) is a rare genetic disorder caused by mutations in the AGPS gene. This condition is characterized by shortening of the bones in the arms and legs, known as rhizomelia, as well as specific bone abnormalities visible on X-rays, referred to as punctate calcifications. Individuals with RCDP3 may also […]