Cone-rod dystrophy X-linked type 3, associated with mutations in the CACNA1F gene, is a rare genetic disorder that affects the retina. This condition leads to the progressive loss of vision due to the degeneration of cone and rod photoreceptor cells in the eye. Understanding the symptoms and the availability of genetic testing is crucial for […]
Ophthalmology Diseases
Symptoms and Testing information for TGFBI Gene Corneal dystrophy epithelial basement membrane Genetic Test
In the realm of genetic diagnostics, the identification of specific gene mutations that contribute to hereditary diseases is a crucial step in providing personalized medicine and targeted treatments. Among these genetic conditions, corneal dystrophies, particularly those associated with the TGFBI gene, have garnered significant attention due to their impact on vision and quality of life. […]
Symptoms and Testing information for VSX1 Gene Corneal dystrophy posterior polymorphous type 1 Genetic Test
Corneal dystrophies are a group of genetic eye disorders that primarily affect the cornea, the clear outer layer of the eye. Among these, Posterior Polymorphous Corneal Dystrophy type 1 (PPCD1) is a rare condition that can lead to vision impairment and, in severe cases, loss of vision. It is primarily associated with mutations in the […]
Symptoms and Testing information for SLC4A11 Gene Corneal endothelial dystrophy type 2 Genetic Test
DNA Labs UAE is at the forefront of genetic diagnostics, offering a comprehensive array of tests aimed at deciphering the complex code embedded within our DNA. Among these, the SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 Genetic Test stands out for its crucial role in diagnosing a rare but impactful eye disorder. This test, priced […]
Symptoms and Testing information for NLRP1 Gene Corneal intraepithelial dyskeratosis and ectodermal dysplasia Genetic Test
Symptoms of NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia Understanding the symptoms of NLRP1 gene corneal intraepithelial dyskeratosis and ectodermal dysplasia is crucial for early diagnosis and treatment. This genetic condition, although rare, affects multiple body systems, including the skin, hair, teeth, and eyes. Individuals with mutations in the NLRP1 gene often exhibit a […]
Symptoms and Testing information for PXDN Gene Corneal opacification and other ocular anomalies Genetic Test
Symptoms of PXDN Gene Corneal Opacification and Other Ocular Anomalies Corneal opacification and other ocular anomalies associated with the PXDN gene present a complex challenge for individuals affected by this genetic condition. The PXDN gene plays a crucial role in eye development and its mutations can lead to a variety of ocular symptoms. Understanding these […]
Symptoms and Testing information for EFEMP1 Gene Doyne honeycob retinal dystrophy Genetic Test
At DNA Labs UAE, we understand the importance of accurate and timely genetic testing for various conditions, including Doyne honeycomb retinal dystrophy (DHRD), a rare, inherited eye disorder. Our EFEMP1 gene test is designed to detect mutations in the EFEMP1 gene, which are responsible for DHRD. This detailed article aims to shed light on the […]
Symptoms and Testing information for CHN1 Gene Duane Retraction syndrome Genetic Test
Duane Retraction Syndrome (DRS) is a congenital eye movement disorder that limits the ability of the eye to move outward toward the ear (abduction) and, in some cases, also limits movement inward toward the nose (adduction). This condition is often associated with the CHN1 gene, and understanding its symptoms is crucial for early diagnosis and […]
Symptoms and Testing information for SALL4 Gene Duane Retraction syndrome Genetic Test
Duane Retraction Syndrome (DRS) is a congenital eye movement disorder that restricts the eye’s ability to move outward toward the ear (abduction) and, in some cases, to move inward toward the nose (adduction). This condition, which can affect one or both eyes, is often diagnosed in early childhood. Among the genes associated with DRS, mutations […]
Symptoms and Testing information for ADAR Gene Dyschromatosis symmetrica hereditaria Genetic Test
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 […]