Craniosynostosis is a condition that affects the skull, causing the bones in a baby’s skull to fuse prematurely. This can lead to abnormal head shapes and can sometimes affect brain development. Among the various types of craniosynostosis, Type 4, associated with the ERF gene, is a particular concern due to its genetic nature. Understanding the […]
Understanding TBX15 Gene Cousin Syndrome Genetic testing has paved the way for the identification and understanding of various genetic disorders, one of which is the TBX15 Gene Cousin Syndrome. This rare genetic condition has been the focus of extensive research, and advancements in genetic testing have made it possible to identify the syndrome through specific […]
Craniodiaphyseal dysplasia (CDD) is a rare genetic disorder that affects the bones, particularly those in the skull and facial region. It is an autosomal dominant condition linked to mutations in the SOST gene, which plays a crucial role in bone formation and maintenance. Understanding the symptoms of this condition is essential for early diagnosis and […]
Symptoms of MEIS2 Gene Cleft Palate, Cardiac Defects, and Mental Retardation The MEIS2 gene plays a crucial role in early development, influencing the formation of various bodily structures, including the palate, heart, and brain. Mutations in this gene can lead to a range of developmental issues, notably cleft palate, cardiac defects, and mental retardation. Recognizing […]
Symptoms of IFT122 Gene Cranioectodermal Dysplasia Type 1 Genetic Test Cranioectodermal Dysplasia Type 1, also known as Sensenbrenner Syndrome, is a rare genetic disorder that affects multiple parts of the body, including the skeleton, kidneys, and skin. This condition is caused by mutations in the IFT122 gene, which plays a crucial role in the development […]
Symptoms of PITX1 Gene Club Foot Genetic Test Clubfoot, also known as talipes equinovarus, is a congenital condition marked by a deformity that affects one or both feet. It is characterized by the foot being turned inward and downward at birth. The PITX1 gene plays a significant role in the development of the lower limbs […]
Cranioectodermal dysplasia, also known as Sensenbrenner syndrome, is a rare genetic disorder that affects multiple parts of the body, including bones, skin, and hair. Among the various types, Cranioectodermal Dysplasia Type 2, specifically associated with mutations in the WDR35 gene, presents a unique set of challenges and symptoms for those affected. Understanding these symptoms is […]
Cockayne Syndrome Type A, also known as CSA, is a rare genetic disorder that affects many parts of the body. The syndrome is primarily characterized by poor growth, premature aging, and sensitivity to sunlight. It is caused by mutations in the ERCC8 gene, also known as the CSA gene, which plays a crucial role in […]
Cranioectodermal Dysplasia (CED), also known as Sensenbrenner syndrome, is a rare genetic disorder that affects multiple parts of the body including the skeleton, skin, and kidneys. Type 3 of this condition, specifically associated with mutations in the IFT43 gene, is a focus of interest for both medical professionals and families affected by the disorder. DNA […]
Symptoms of ERCC6 Gene Cockayne Syndrome Type B Genetic Test Cockayne Syndrome (CS) is a rare and complex genetic disorder characterized by growth failure, premature aging, and sensitivity to sunlight. Type B, associated with mutations in the ERCC6 gene, is one of the forms of this syndrome. Recognizing the symptoms early can significantly impact the […]
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