Cutis Laxa Type 2, caused by mutations in the FBLN5 gene, is a rare genetic disorder that affects connective tissue, the material that provides structure and support to the skin, blood vessels, and other organs. This condition is characterized by loose, sagging skin that lacks elasticity, alongside other systemic manifestations. Understanding the symptoms of this […]
Osteology Diseases
Symptoms and Testing information for RAG2 Gene Combined Cellular and Humoral Immune Defects with Granulomas Genetic Test
The RAG2 gene plays a crucial role in the immune system, facilitating the development of T and B cells, which are essential for the body’s defense against pathogens. A mutation in this gene can lead to a complex condition known as Combined Cellular and Humoral Immune Defects with Granulomas. This rare genetic disorder impacts the […]
Symptoms and Testing information for ATP6V0A2 Gene Cutis Laxa Type 2A Autosomal Recessive Genetic Test
In the realm of genetic testing, advancements have paved the way for the identification and understanding of various genetic disorders, one of which is Cutis Laxa Type 2A, a rare condition caused by mutations in the ATP6V0A2 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the ATP6V0A2 Gene […]
Symptoms and Testing information for RAG2 Gene Combined Immunodeficiency B Cell-Negative T Cell-Negative NK Cell Positive Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a wide array of tests to diagnose genetic conditions. Among these, the RAG2 Gene Combined Immunodeficiency B Cell-Negative T Cell-Negative NK Cell Positive Genetic Test stands out for its critical importance in identifying a rare but severe immunodeficiency disorder. This condition, often […]
Symptoms and Testing information for C5 Gene C5 Deficiency Genetic Test
Understanding the nuances of our genetic makeup can lead to groundbreaking insights into our health and well-being. One area of growing interest and concern is the role of the C5 gene and its implications when deficiencies arise. DNA Labs UAE is at the forefront of genetic testing and offers a comprehensive C5 Gene C5 Deficiency […]
Symptoms and Testing information for C7 Gene C7 Deficiency Genetic Test
In the realm of genetic diagnostics, understanding the intricacies of our genetic makeup has never been more accessible. Among the myriad of genetic conditions that science has unveiled, C7 Gene deficiency stands out due to its critical role in the complement system, a part of the immune system that enhances the ability of antibodies and […]
Symptoms and Testing information for IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test
Understanding the complexities of genetic disorders is crucial for early diagnosis and management. One such condition involves a combination of symptoms attributed to mutations in the IARS2 gene. These symptoms include cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. DNA Labs UAE offers a comprehensive genetic test for those who may […]
Symptoms and Testing information for LYST Gene Chediak-Higashi Syndrome Genetic Test
Chediak-Higashi Syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diatheses, neurological dysfunction, and immunodeficiency, leading to recurrent infections. This condition results from mutations in the LYST (lysosomal trafficking regulator) gene, which plays a crucial role in the regulation of lysosomal trafficking. Understanding the symptoms of Chediak-Higashi Syndrome is essential for […]
Symptoms and Testing information for PTPN14 Gene Choanal Atresia and Lymphedema Genetic Test
Choanal atresia and lymphedema are two conditions that can significantly impact an individual’s quality of life. These conditions can be challenging to diagnose, especially in their early stages. However, advancements in genetic testing have made it possible to identify specific genes associated with these conditions, providing hope and clarity for affected individuals and their families. […]
Symptoms and Testing information for ANKH Gene Chondrocalcinosis Type 2 Genetic Test
Chondrocalcinosis, also known as calcium pyrophosphate deposition (CPPD) disease, is a rheumatologic condition marked by the accumulation of calcium pyrophosphate dihydrate crystals in the joints and connective tissues. This condition can lead to episodes of painful arthritis, commonly affecting the knees, wrists, and other joints. One specific form of this condition, Chondrocalcinosis Type 2, is […]