Symptoms of PNP Gene Immunodeficiency due to Purine Nucleoside Phosphorylase Deficiency Purine Nucleoside Phosphorylase (PNP) deficiency is a rare genetic disorder that affects the immune system, leading to severe immunodeficiency. It is caused by mutations in the PNP gene, which plays a crucial role in the breakdown of certain molecules in the body. This deficiency […]
Symptoms of CYBB Gene Immunodeficiency Type 34 Genetic Test Understanding the intricacies of genetic conditions is crucial for early diagnosis and effective treatment. Among these, CYBB gene immunodeficiency, also known as Chronic Granulomatous Disease (CGD) Type 34, is a condition that affects the immune system’s ability to fight off certain infections. The CYBB gene plays […]
In the realm of genetic diagnostics and patient care, the advancement in identifying and understanding genetic disorders has been monumental. Among these advancements is the elucidation of the STIM1 gene and its critical role in the immune system. A mutation in the STIM1 gene leads to a rare but severe condition known as Immunodeficiency Type […]
In the realm of genetic diagnostics, understanding the intricacies of our genetic makeup has become crucial in identifying and managing various inherited conditions. Among these, immunodeficiencies represent a complex group of disorders that compromise the body’s ability to fight infections. A noteworthy contributor to this category is the TYK2 gene immunodeficiency, specifically Type 35, which […]
Ichthyosis lamellar type 2, also known as Harlequin ichthyosis, is a severe genetic disorder that affects the skin. This condition is caused by mutations in the ABCA12 gene, which plays a crucial role in the development of the lipid barrier of the skin. Individuals with this condition are born with very hard, thick skin covering […]
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 […]
Symptoms of STS Gene Ichthyosis X-linked Genetic Test X-linked ichthyosis (XLI) is a genetic condition that affects the skin, caused by a mutation in the STS (steroid sulfatase) gene. This condition is inherited in an X-linked recessive pattern, primarily affecting males, while females can be carriers with mild or no symptoms. Understanding the symptoms 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.
