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Symptoms and Testing information for Maternal UPD Chr. 7 Gene Silver-Russell Syndrome Genetic Test

In the realm of genetic diagnostics and family health, understanding the implications of certain genetic conditions is paramount for early intervention and treatment. Among these conditions, Silver-Russell Syndrome (SRS) stands out due to its distinctive features and the unique genetic mechanisms behind its occurrence. At DNA Labs UAE, we are committed to providing comprehensive genetic

Symptoms and Testing information for DHCR7 Gene Smith-Lemli-Opitz Syndrome Genetic Test

Understanding Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome (SLOS) is a rare, genetic disorder that affects multiple parts of the body. This condition, which is present from birth, is caused by mutations in the DHCR7 gene. This gene plays a crucial role in the production of cholesterol in the body. Cholesterol, despite its negative reputation, is essential for

Symptoms and Testing information for CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test

— Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder that affects many parts of the body. Individuals with this condition often have distinctive facial features, broad thumbs and toes, short stature, and moderate to severe intellectual disability. The syndrome is primarily caused by mutations in the CREBBP gene, although mutations in the EP300 gene can

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 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 TCF4 Gene Pitt-Hopkins Syndrome Genetic Test

Pitt-Hopkins Syndrome (PTHS) is a rare genetic condition characterized by developmental delays, possible breathing problems, recurrent seizures (epilepsy), and distinctive facial features. The syndrome is caused by mutations in the TCF4 gene, which plays a crucial role in the development of the nervous system. Early diagnosis and intervention are key to managing the symptoms and

Symptoms and Testing information for TUBB2B Gene Polymicrogyria Asymmetric Genetic Test

Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In polymicrogyria, the brain develops too many folds, and these folds are unusually small. The TUBB2B gene plays a significant role in this condition, particularly in cases of asymmetric

Symptoms and Testing information for ADGRG1 Gene Polymicrogyria Bilateral Frontoparietal Genetic Test

Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In polymicrogyria, the brain develops too many folds, and these folds are unusually small. The ADGRG1 gene has been identified as one of the genetic contributors to polymicrogyria, specifically

Symptoms and Testing information for RIPK4 Gene Popliteal Pterygium Syndrome Lethal Type Genetic Test

Popliteal Pterygium Syndrome (PPS) Lethal Type is a rare genetic disorder that can cause severe developmental anomalies in affected individuals. This condition is characterized by a range of physical manifestations, including skin webbing behind the knees, cleft lip or palate, genital abnormalities, and more. The lethal type of PPS is particularly severe and is caused

Symptoms and Testing information for DHODH Gene Postaxial Acrofacial Dysostosis Genetic Test

In the intricate world of genetics, understanding the underlying causes of various congenital conditions is paramount for early diagnosis and effective management. One such condition that has garnered attention within the scientific and medical communities is Postaxial Acrofacial Dysostosis (PAD), a disorder that affects the development of the face, limbs, and other body parts. At