Achromatopsia is a rare, inherited eye condition that severely limits a person’s ability to see color, perceive fine detail, and tolerate bright light. Among the genetic variants that cause achromatopsia, mutations in the CNGA3 gene are responsible for what is known as Achromatopsia Type 2. Understanding the symptoms of this condition is crucial for early […]
Ophthalmology Diseases
Symptoms and Testing information for CNGB3 Gene Achromatopsia Type 3 Genetic Test
Understanding Achromatopsia Type 3 Achromatopsia Type 3 is a rare genetic condition that significantly affects an individual’s vision, primarily characterized by a complete or partial absence of color vision, light sensitivity, and visual acuity limitations. This condition stems from mutations in the CNGB3 gene, which plays a crucial role in the normal functioning of cone […]
Symptoms and Testing information for GNAT2 Gene Achromatopsia Type 4 Genetic Test
Achromatopsia, a rare genetic condition affecting approximately 1 in 30,000 individuals worldwide, is characterized by a significant reduction or complete absence of color vision. Among the genes implicated in this condition, the GNAT2 gene is noteworthy for its role in Achromatopsia Type 4. DNA Labs UAE is at the forefront of genetic testing for this […]
Symptoms and Testing information for PDE6H Gene Achromatopsia Type 6 Genetic Test
Achromatopsia is a rare, inherited eye condition that significantly affects an individual’s vision, characterized primarily by a severe limitation in color discrimination, decreased vision, light sensitivity, and involuntary eye movements. Among the genes associated with this condition, mutations in the PDE6H gene are known to cause Achromatopsia Type 6. Understanding the symptoms of this genetic […]
Symptoms and Testing information for CACNA1F Gene Aland Island Eye Disease Genetic Test
Understanding the nuances of genetic disorders is crucial for early diagnosis and management. One such rare genetic condition is the Aland Island Eye Disease (AIED), primarily affecting males due to its X-linked inheritance pattern. This condition is caused by mutations in the CACNA1F gene, which plays a significant role in the normal functioning of the […]
Symptoms and Testing information for GPR143 Gene Albinism Ocular Type I Nettleship-Falls Type Genetic Test
Albinism is a group of genetic conditions characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes. Among the various types of albinism, Ocular Albinism Type I, also known as Nettleship-Falls Type, is a condition that primarily affects the eyes. This condition is linked to mutations in the GPR143 […]
Symptoms and Testing information for SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test
Albinism is a genetic condition that affects the production of melanin, the pigment that colors our skin, hair, and eyes. Among the various types of albinism, Oculocutaneous Albinism (OCA) is one that not only impacts the appearance of an individual’s skin and hair but also their vision. A specific form of this condition, linked to […]
Symptoms and Testing information for TYR Gene Albinism Oculocutaneous Type 1A Genetic Test
Albinism is a group of genetic disorders characterized by a lack or decrease in melanin production. Melanin is the pigment responsible for the color of the skin, hair, and eyes. Among the different types of albinism, Oculocutaneous Albinism Type 1A (OCA1A) is one of the most severe forms, caused by mutations in the TYR gene. […]
Symptoms and Testing information for TYR Gene Albinism Oculocutaneous Type 1B Genetic Test
Albinism is a group of genetic disorders characterized by little or no production of the pigment melanin, affecting the color of the skin, hair, and eyes. Among the various types, Oculocutaneous Albinism Type 1B (OCA1B) is specifically caused by mutations in the TYR gene. This type of albinism not only affects the pigmentation but also […]
Symptoms and Testing information for Ophthalmology Eyes Vision Panel NGS Genetic Test
In the realm of ophthalmology, understanding the genetic underpinnings of eye conditions has become increasingly important. At DNA Labs UAE, we are at the forefront of providing comprehensive genetic testing services that cater to a wide range of ophthalmic conditions. One of our key offerings is the Ophthalmology Eyes Vision Panel NGS Genetic Test. This […]