Symptoms of ADAR Gene Dyschromatosis Symmetrica Hereditaria Dyschromatosis symmetrica hereditaria (DSH) is a rare genetic disorder, primarily affecting the skin. It is characterized by a mixture of hyperpigmented and hypopigmented macules, mainly on the backs of the hands and feet, and sometimes on the face. These skin changes typically appear in infancy or early childhood […]
2024
Symptoms and Testing information for COL15A1 Gene Early onset glaucoma phenotype modifier of COL15A1 related Genetic Test
Glaucoma is a group of eye conditions that can cause blindness by damaging the optic nerve, which is vital for good vision. This damage is often caused by an abnormally high pressure in your eye. One of the genetic factors associated with the development of early-onset glaucoma is the COL15A1 gene. Understanding the role of […]
Symptoms and Testing information for ADAMTSL4 Gene Ectopia lentis et pupillae Genetic Test
Ectopia lentis et pupillae is a rare genetic disorder characterized by the dislocation of the lens and pupil of the eye. This condition is primarily caused by mutations in the ADAMTSL4 gene. Understanding the symptoms associated with this condition is crucial for early diagnosis and treatment. DNA Labs UAE offers a comprehensive genetic test for […]
Symptoms and Testing information for FBN1 Gene Ectopia lentis familial Genetic Test
— Ectopia lentis is a condition characterized by the displacement or malposition of the crystalline lens of the eye. This condition can occur due to various reasons, but when it is specifically linked to a genetic cause, the FBN1 gene is often involved. The FBN1 gene is responsible for the production of fibrillin-1, a protein […]
Symptoms and Testing information for ADAMTSL4 Gene Ectopia lentis isolated autosomal recessive Genetic Test
Ectopia lentis refers to the displacement or malposition of the eye’s lens, a condition that can occur due to various reasons, including genetic factors. One such genetic cause is mutations in the ADAMTSL4 gene, leading to an autosomal recessive form of isolated ectopia lentis. Understanding this condition, its symptoms, and the significance of genetic testing […]
Symptoms and Testing information for LOXL1 Gene Exfoliation syndrome susceptibility to Genetic Test
Symptoms of LOXL1 Gene Exfoliation Syndrome Susceptibility to Genetic Test Exfoliation syndrome (XFS) is a systemic condition characterized by the accumulation of fibrillar extracellular material in various organs, including the eyes. This syndrome is the most common identifiable cause of open-angle glaucoma, posing significant risks to those affected. The LOXL1 gene has been strongly associated […]
Symptoms and Testing information for FZD4 Gene Exudative vitreoretinopathy Genetic Test
Exudative vitreoretinopathy, also known as Familial Exudative Vitreoretinopathy (FEVR), is a rare genetic disorder that affects the growth and development of blood vessels in the retina of the eye. This condition can lead to visual impairment or blindness if not diagnosed and treated in a timely manner. One of the genes associated with this condition […]
Symptoms and Testing information for NDP Gene Exudative vitreoretinopathy type 2 Genetic Test
In the realm of genetic testing, understanding the intricacies of specific genes and their associated conditions is crucial for early diagnosis and management. One such condition, Exudative Vitreoretinopathy Type 2 (EVR2), linked to mutations in the NDP gene, underscores the importance of genetic testing for individuals at risk. DNA Labs UAE stands at the forefront […]
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 […]