Leber’s Hereditary Optic Neuropathy (LHON) is a rare genetic disorder that primarily affects the eyes and vision. It is characterized by the sudden loss of central vision, which is crucial for tasks such as reading, driving, and recognizing faces. LHON is caused by mutations in the mitochondrial DNA, and it is therefore inherited in a […]
Ophthalmology Diseases
Symptoms and Testing information for CYP1B1 Gene Glaucoma primary type 3A Genetic Test
Glaucoma is a group of eye conditions that can lead to vision loss by damaging the optic nerve, often associated with increased pressure in the eye. Primary Congenital Glaucoma (PCG) is a severe form of glaucoma that appears early in life, ranging from birth to the first few years. Among the genetic variations contributing to […]
Symptoms and Testing information for LTBP2 Gene Glaucoma primary type 3D Genetic Test
Glaucoma is a group of eye conditions that damage the optic nerve, the health of which is crucial for good vision. This damage is often caused by an abnormally high pressure in your eye and can lead to blindness if not treated. Among the various types of glaucoma, Primary Congenital Glaucoma (PCG) is a rare, […]
Symptoms and Testing information for OAT Gene Gyrate atrophy of choroid and retina with or without ornithinemia Genetic Test
Gyrate atrophy of the choroid and retina is a rare, inherited condition that can lead to progressive vision loss. This condition is caused by mutations in the OAT gene, which lead to a deficiency of the enzyme ornithine aminotransferase. This enzyme plays a crucial role in the metabolism of amino acids in the body. When […]
Symptoms and Testing information for RB1 Gene Hereditary Retinoblastoma Genetic Test
In the realm of genetic diagnostics and disease prevention, understanding the implications of specific gene mutations is paramount. Among these, the RB1 gene plays a critical role, particularly in the context of hereditary retinoblastoma. DNA Labs UAE stands at the forefront of genetic testing, offering comprehensive insights into the RB1 gene’s mutations through the RB1 […]
Symptoms and Testing information for HPS4 Gene Hermansky Pudlak syndrome type 4 Genetic Test
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects multiple organs of the body. Among its various types, Type 4, caused by mutations in the HPS4 gene, presents unique challenges and symptoms for those affected. Understanding these symptoms and the availability of genetic testing for HPS4 can empower individuals and families to manage the […]
Symptoms and Testing information for PLA2G5 Gene Fleck retina familial benign Genetic Test
Understanding the nuances of genetic conditions is pivotal in the realm of modern medicine and health management. Among the various genetic tests available, the PLA2G5 Gene Fleck Retina Familial Benign Genetic Test stands out for its specificity in diagnosing a unique retinal condition. This test, offered by DNA Labs UAE, is crucial for individuals who […]
Symptoms and Testing information for HPS1 Gene Hermansky-Pudlak syndrome type 1 Genetic Test
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that can significantly impact an individual’s health and quality of life. Among the various types of this syndrome, Type 1, associated with mutations in the HPS1 gene, is particularly notable for its symptoms and health implications. DNA Labs UAE offers a comprehensive genetic test for this condition, […]
Symptoms and Testing information for PAX6 Gene Foveal hypoplasia type 1 Genetic Test
Foveal hypoplasia is a rare genetic condition that affects the development of the fovea, the central pit in the eye where visual acuity is highest. This condition can result in significant visual impairment. One of the genes associated with foveal hypoplasia is the PAX6 gene. Mutations in this gene can lead to Foveal Hypoplasia type […]
Symptoms and Testing information for AP3B1 Gene Hermansky-Pudlak syndrome type 2 Genetic Test
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects multiple organs of the body. It is characterized by a lack of pigmentation (albinism), bleeding disorders, and lung and bowel diseases. Among its types, Hermansky-Pudlak Syndrome type 2 (HPS-2) is caused by mutations in the AP3B1 gene. This particular type not only shares common symptoms […]