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Symptoms and Testing information for EPG5 Gene Vici Syndrome Genetic Test

Vici syndrome is a rare genetic disorder characterized by a spectrum of clinical manifestations, primarily affecting the brain, immune system, heart, skin, and eyes. It is caused by mutations in the EPG5 gene, which plays a crucial role in the autophagic process, essential for the degradation and recycling of cellular components. Recognizing the symptoms early

Symptoms and Testing information for GDF1 Gene Transposition of Great Arteries Dextro-Looped 3 Genetic Test

Understanding the genetic underpinnings of congenital heart defects is crucial for early diagnosis and management. One such genetic condition is the Transposition of the Great Arteries Dextro-Looped 3 (TGA-D3), which is associated with mutations in the GDF1 gene. DNA Labs UAE offers a comprehensive genetic test for this condition, aiming to provide vital information for

Symptoms and Testing information for TCOF1 Gene Treacher Collins Syndrome Type 1 Genetic Test

Treacher Collins Syndrome Type 1 (TCS1) is a genetic condition that affects the development of bones and other tissues of the face. The symptoms can vary widely among individuals, from mild to severe. The condition is caused by mutations in the TCOF1 gene. Understanding the symptoms and undergoing genetic testing can be crucial for diagnosis,

Symptoms and Testing information for POLR1D Gene Treacher Collins Syndrome Type 2 Genetic Test

Treacher Collins Syndrome (TCS) is a rare genetic disorder characterized by craniofacial deformities. It is primarily caused by mutations in certain genes, with POLR1D being one of the implicated genes in what is known as Treacher Collins Syndrome Type 2. This condition affects the development of bones and other tissues of the face, leading to

Symptoms and Testing information for POLR1C Gene Treacher Collins Syndrome Type 3 Genetic Test

Treacher Collins Syndrome (TCS) is a genetic disorder characterized by craniofacial deformities, arising from mutations in specific genes. Type 3 TCS, in particular, is associated with mutations in the POLR1C gene. Understanding the symptoms and the importance of genetic testing for this condition can significantly impact the lives of affected individuals and their families. DNA

Symptoms and Testing information for FGFR1 Gene Trigonocephaly Type 1 Genetic Test

In the realm of genetic diagnostics, the advancements have been nothing short of revolutionary. One such breakthrough has been in the identification and understanding of specific genetic conditions, such as those caused by mutations in the FGFR1 gene, leading to Trigonocephaly Type 1. DNA Labs UAE stands at the forefront of these advancements, offering comprehensive

Symptoms and Testing information for IRF6 Gene Van der Woude Syndrome Type 1 Genetic Test

Van der Woude Syndrome Type 1 (VWS1) is a genetic condition that is primarily known for its orofacial manifestations. It is an autosomal dominant disorder, meaning that only one copy of the altered gene is sufficient to cause the disorder. The gene implicated in this condition is the IRF6 gene, which plays a crucial role

Symptoms and Testing information for LIFR Gene Stuve-Wiedemann Syndrome Genetic Test

Stuve-Wiedemann Syndrome (SWS), also known as Schwartz-Jampel Syndrome Type 2, is a rare genetic disorder that is present from birth. This condition is characterized by skeletal abnormalities, muscle weakness, and difficulties in regulating body temperature. It is caused by mutations in the LIFR gene, which plays a crucial role in the development and function of

Symptoms and Testing information for Maternal UPD Chr. 14 Gene Temple Syndrome Genetic Test

Symptoms of Maternal UPD Chr. 14 Gene Temple Syndrome Genetic Test Maternal Uniparental Disomy of Chromosome 14 (matUPD(14)) is a rare genetic condition, often associated with a constellation of physical and developmental symptoms known as Temple Syndrome. This condition arises when a child inherits two copies of chromosome 14 from the mother and none from

Symptoms and Testing information for Chr. 11p15 Gene Silver-Russell Syndrome Genetic Test

Understanding Chr. 11p15 Gene Silver-Russell Syndrome Silver-Russell Syndrome (SRS) is a rare congenital disorder, characterized by growth restriction before birth, leading to low birth weight and subsequent growth problems after birth. This condition is also associated with distinctive facial features, asymmetry of body parts, and other developmental anomalies. A crucial factor in diagnosing this syndrome