Lissencephaly, also known as “smooth brain” syndrome, is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). One of the genes associated with this condition is PAFAH1B1, and its mutations can lead to Lissencephaly Type 1. DNA Labs UAE offers a […]
Symptoms of SALL4 Gene IVIC Syndrome IVIC Syndrome, a rare genetic disorder, is caused by mutations in the SALL4 gene. This condition presents a spectrum of symptoms that can vary significantly among affected individuals. Understanding these symptoms is crucial for early diagnosis and management of the syndrome. Key Symptoms of IVIC Syndrome The SALL4 gene […]
Symptoms of FGFR1 Gene Jackson-Weiss Syndrome Genetic Test Jackson-Weiss Syndrome (JWS) is a rare genetic disorder characterized by craniosynostosis, which is the premature fusion of skull bones, foot abnormalities, and in some cases, hand anomalies. This condition is caused by mutations in the FGFR1 gene, which plays a crucial role in cell division, growth, and […]
Symptoms of FGFR2 Gene Jackson-Weiss Syndrome Genetic Test Jackson-Weiss Syndrome (JWS) is a rare genetic disorder characterized by craniosynostosis, which is the premature fusion of skull bones, leading to an abnormal head shape. It also involves foot abnormalities such as broad and medially deviated great toes, and in some cases, soft tissue and bony fusion. […]
At DNA Labs UAE, we understand the importance of accurate genetic testing for identifying various syndromes and conditions that can impact individuals and families. One such condition is Jawad Syndrome, which is associated with mutations in the RBBP8 gene. This article aims to provide comprehensive information on the symptoms of Jawad Syndrome and details about […]
Kabuki syndrome is a rare, multisystem disorder characterized by a range of physical and developmental issues. One of the primary genetic causes of Kabuki syndrome type 1 is mutations in the KMT2D gene. Understanding the symptoms and undergoing genetic testing can be crucial for early intervention and management of the condition. DNA Labs UAE offers […]
Kabuki syndrome is a rare, multi-system disorder characterized by a range of physical and developmental abnormalities. Type 2 Kabuki syndrome, specifically, is associated with mutations in the KDM6A gene. This genetic condition affects many parts of the body, including facial features, growth, skeletal structure, and neurological development. Recognizing the symptoms early can lead to timely […]
Understanding the complexities of genetic conditions is crucial in the realm of medical science. One such rare genetic disorder is the Kagami-Ogata Syndrome (KOS), which results from Paternal Uniparental Disomy of Chromosome 14 (patUPD14). Recognizing the symptoms and seeking timely diagnosis can significantly impact the management and quality of life for individuals affected by this […]
Kallmann Syndrome is a rare genetic disorder characterized by the failure to start or fully complete puberty, coupled with an impaired sense of smell, known as anosmia. This condition is a form of hypogonadotropic hypogonadism, where there is a deficiency in the production of the gonadotropin-releasing hormone (GnRH). One of the genes associated with this […]
Kallmann Syndrome Type 4 is a rare genetic disorder characterized by a combination of delayed or absent puberty and an impaired sense of smell. This condition is a result of mutations in the PROK2 gene, which plays a crucial role in the development of certain neuronal circuits necessary for the regulation of reproductive hormones and […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
