Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects many parts of the body. Among the various types of this syndrome, Type 14, linked to mutations in the CEP290 gene, is one of the rare forms. Recognizing the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a […]
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Symptoms and Testing information for PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test
Symptoms of PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test Understanding the genetic basis of eye disorders can significantly improve the quality of life for those affected. Among these genetic conditions, anterior segment mesenchymal dysgenesis (ASMD) is a rare, inherited eye disorder that can lead to a range of symptoms affecting the anterior segment of […]
Symptoms and Testing information for PAX6 Gene Aniridia Genetic Test
Symptoms of PAX6 Gene Aniridia Genetic Test Aniridia is a rare genetic disorder characterized by the underdevelopment of the iris in the eye, which is the colored part surrounding the pupil. This condition is primarily associated with mutations in the PAX6 gene, a critical factor in eye development during the embryonic stage. Recognizing the symptoms […]
Symptoms and Testing information for C10ORF11 Gene Albinism Oculocutaneous Type 5 Genetic Test
Albinism is a group of genetic disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes. Among its various types, Oculocutaneous Albinism Type 5 (OCA5), associated with mutations in the C10ORF11 gene, is relatively less understood due to its recent discovery. Recognizing the symptoms associated with this genetic […]
Symptoms and Testing information for SLC45A2 Gene Albinism Oculocutaneous Type 4 Genetic Test
Albinism is a group of genetic disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes. Among the various types of albinism, Oculocutaneous Albinism Type 4 (OCA4), caused by mutations in the SLC45A2 gene, is one of the less common forms. Understanding the symptoms and genetic basis of […]
Symptoms and Testing information for TYRP1 Gene Albinism Oculocutaneous Type 3 Genetic Test
Albinism is a group of genetic disorders characterized by a reduced amount of melanin pigment in the skin, hair, and eyes. Among the various types of albinism, Oculocutaneous Albinism Type 3 (OCA3), also known as rufous or red albinism, is caused by mutations in the TYRP1 gene. This particular form of albinism is less common […]
Symptoms and Testing information for OCA2 Gene Albinism Oculocutaneous Type 2 Genetic Test
Symptoms of OCA2 Gene Albinism Oculocutaneous Type 2 Oculocutaneous albinism type 2 (OCA2), caused by mutations in the OCA2 gene, is a genetic condition characterized by reduced pigmentation in the hair, skin, and eyes. This form of albinism, while affecting melanin production, varies significantly in terms of its presentation among individuals, with symptoms ranging from […]
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 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 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 […]