Ichthyosis lamellar type 3 is a rare genetic condition that significantly impacts the skin, causing it to become dry, scaly, and thickened. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The CYP4F22 gene has been […]
Understanding the LIPN Gene and Its Role in Ichthyosis Lamellar Type 4 Ichthyosis Lamellar type 4, a rare genetic condition, has garnered significant attention within the medical community due to its profound impact on those affected. At the core of this condition lies the LIPN gene, whose mutations are responsible for the development of the […]
Understanding the complex nature of genetic disorders is crucial in today’s medical landscape. Among these, the CLDN1 gene-related syndrome is a rare genetic condition that can lead to a variety of symptoms, making it a challenging disorder to diagnose and manage. DNA Labs UAE is at the forefront of genetic testing, offering comprehensive solutions, including […]
Understanding the complexities of genetic conditions is essential for both patients and medical professionals. One such complex condition is associated with mutations in the ELOVL4 gene, leading to a rare and severe syndrome characterized by ichthyosis, spastic quadriplegia, and mental retardation. This condition represents a significant challenge in the field of medical genetics, emphasizing the […]
Understanding the complexities of genetic conditions is crucial for early diagnosis and effective management. One such condition is Ichthyosiform erythroderma congenital nonbullous type 1, caused by mutations in the NIPAL4 gene. This rare genetic disorder can lead to significant dermatological manifestations from birth or early childhood. At DNA Labs UAE, we provide comprehensive genetic testing […]
Hypophosphatemic rickets, particularly the autosomal recessive type 2, is a rare but significant condition that impacts the bones, leading to their softening and weakening. This condition is primarily caused by mutations in the ENPP1 gene. Understanding the symptoms and genetic underpinnings of this condition is crucial for timely diagnosis and management. DNA Labs UAE offers […]
Ichthyosis congenital autosomal recessive PNPLA1 related is a rare genetic condition that significantly affects the skin. Individuals with this condition have a mutation in the PNPLA1 gene, which plays a crucial role in the development and maintenance of healthy skin. This article delves into the symptoms of this genetic disorder and provides detailed information about […]
Hypophosphatemic rickets, specifically the X-linked form, is a rare genetic disorder that affects the bones, leading to abnormalities such as bowing of the legs, dental anomalies, and bone pain. This condition is primarily caused by mutations in the PHEX gene. Understanding the symptoms and genetic underpinnings of this disease is crucial for early diagnosis and […]
Ichthyosis congenital, specifically the Harlequin fetus type, is a rare and severe genetic disorder that affects the skin. It is primarily caused by mutations in the ABCA12 gene, which plays a crucial role in the development of the skin’s lipid barrier. This condition is characterized by thick, hard, and deeply cracked skin, resembling the costume […]
— Hypotrichosis and recurrent skin vesicles are rare genetic conditions that have garnered attention in the medical community due to their unique symptoms and inheritance patterns. These conditions are often caused by mutations in the DSC3 gene. Understanding these conditions, their symptoms, and the availability of genetic testing is crucial for affected individuals and their […]
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.
