Blau syndrome is a rare genetic disorder that is often characterized by a triad of symptoms: granulomatous arthritis, uveitis, and dermatitis. It is an autosomal dominant condition, meaning that only one copy of the mutated gene is necessary for the manifestation of the disorder. The gene associated with Blau syndrome is NOD2, located on chromosome […]
Dysmorphology Diseases
Symptoms and Testing information for GMPPA Gene Alacrima Achalasia and Mental Retardation Syndrome Genetic Test
Understanding the symptoms of GMPPA Gene Alacrima Achalasia and Mental Retardation Syndrome (AAMR) is crucial for early diagnosis and intervention. This rare genetic disorder can significantly impact an individual’s quality of life, making awareness and knowledge about it of utmost importance. At DNA Labs UAE, we offer a comprehensive genetic test for AAMR, priced at […]
Symptoms and Testing information for JAG1 Gene Alagille Syndrome Type 1 Genetic Test
Alagille Syndrome Type 1 is a complex genetic disorder that affects multiple organ systems of the body, primarily the liver, heart, skeleton, eyes, and kidneys. It is characterized by a broad spectrum of symptoms and signs, which can vary significantly from one individual to another. At the core of this condition is a mutation in […]
Symptoms and Testing information for NOTCH2 Gene Alagille Syndrome Type 2 Genetic Test
Alagille Syndrome is a genetic disorder that can affect multiple organ systems of the body, including the liver, heart, skeleton, eyes, and kidneys. It is primarily known for causing liver damage due to abnormalities in the bile ducts. The condition is highly variable in its severity and manifestations, making it crucial for individuals to undergo […]
Symptoms and Testing information for LARP7 Gene Alazami Syndrome Genetic Test
— Alazami Syndrome is a rare genetic disorder characterized by a range of physical and developmental challenges. This condition is linked to mutations in the LARP7 gene, a critical component in the body’s cellular machinery. Recognizing the symptoms early on can lead to timely intervention and management strategies that can significantly improve the quality of […]
Symptoms and Testing information for ATRX Gene Alpha-Thalassemiamental Retardation Syndrome Genetic Test
Alpha-Thalassemia/Mental Retardation Syndrome (ATR-X) is a rare genetic condition that affects many parts of the body. This condition, which occurs almost exclusively in males, is characterized by alpha-thalassemia, developmental delays, intellectual disability, and distinctive facial features. Understanding the symptoms of ATR-X syndrome is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive […]
Symptoms and Testing information for TP63 Gene Ankyloblepharon-Ectodermal Defects-Cleft Lippalate Genetic Test
In the realm of genetic diagnostics, understanding the complexities of various syndromes is crucial for early intervention and management. One such complex condition involves the TP63 gene, which has been linked to Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. This rare genetic disorder presents a variety of symptoms that can significantly impact an individual’s quality of life. […]
Symptoms and Testing information for PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test
Symptoms of PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Anterior Segment Mesenchymal Dysgenesis (ASMD) is a rare genetic disorder that affects the development of the eyes, leading to various ocular abnormalities. This condition is primarily associated with mutations in the PITX3 gene. Understanding the symptoms of ASMD is crucial for early diagnosis and management of the […]
Symptoms and Testing information for FGFR2 Gene Antley-Bixler Syndrome Genetic Test
Antley-Bixler Syndrome, a rare genetic disorder, is characterized by numerous skeletal abnormalities that are often present at birth. This condition is primarily associated with mutations in the FGFR2 gene, which plays a crucial role in early bone development and growth. Recognizing the symptoms early can be vital for managing the condition effectively. DNA Labs UAE […]
Symptoms and Testing information for FGFR2 Gene Apert Syndrome Genetic Test
Symptoms of FGFR2 Gene Apert Syndrome Genetic Test Apert Syndrome is a genetic disorder that results from the mutation of the FGFR2 (Fibroblast Growth Factor Receptor 2) gene. This rare condition is characterized by the premature fusion of certain skull bones (craniosynostosis), which affects the shape of the head and face. Additionally, individuals with Apert […]