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, […]
Dr Padmaja
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 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 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 […]
Symptoms and Testing information for HPS3 Gene Hermansky-Pudlak syndrome type 3 Genetic Test
Understanding Hermansky-Pudlak Syndrome Type 3 (HPS3) Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects multiple organs of the body. Among its various types, Type 3, caused by mutations in the HPS3 gene, is significant for its clinical manifestations. It is characterized by a triad of symptoms: oculocutaneous albinism (a condition affecting the coloring […]
Symptoms and Testing information for DHH Gene 46XY gonadal dysgenesis partial with minifascicular neuropathy Genetic Test
Understanding the intricacies of our genetic makeup has never been more accessible, thanks to the advancements in genetic testing technologies. One such advancement is the capability to diagnose specific genetic conditions that were once a challenge to healthcare professionals. Among these conditions is the 46XY gonadal dysgenesis partial with minifascicular neuropathy, a rare genetic disorder […]
Symptoms and Testing information for TSPAN12 Gene Exudative vitreoretinopathy type 5 Genetic Test
Exudative vitreoretinopathy type 5, caused by mutations in the TSPAN12 gene, is a genetic disorder that affects the eyes. It can lead to a variety of symptoms, impacting the quality of life of those affected. Understanding the symptoms and the availability of genetic testing can provide crucial information for managing this condition. DNA Labs UAE […]
Symptoms and Testing information for KIF21A Gene Fibrosis of extraocular muscles congenital type 1 Genetic Test
Understanding KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1 Fibrosis of the extraocular muscles congenital type 1 (CFEOM1) is a rare genetic disorder that primarily affects the muscles that control eye movement. It is caused by mutations in the KIF21A gene. Individuals with this condition often present with a distinctive eye movement disorder from […]