In the realm of genetic testing, advancements have led to the identification and understanding of various genetic disorders that were once shrouded in mystery. One such condition is Acromesomelic Dysplasia, Maroteaux Type, a rare form of dwarfism caused by mutations in the NPR2 gene. This disorder is characterized by severe shortening of the bones in […]
Dysmorphology Diseases
Symptoms and Testing information for CRELD1 Gene Atrioventricular Septal Defect Partial with Heterotaxy Syndrome Genetic Test
Understanding the complexities of genetic conditions is essential for early diagnosis and management. One such condition that has garnered attention is the CRELD1 gene-related atrioventricular septal defect partial with heterotaxy syndrome. This condition is a congenital heart defect that is often diagnosed in infancy or early childhood. In this article, we will delve into the […]
Symptoms and Testing information for FBN1 Gene Acromicric Dysplasia Genetic Test
Acromicric Dysplasia is a rare genetic disorder that affects the development of bones and connective tissue, leading to short stature, short hands and feet, and facial abnormalities. This condition is caused by mutations in the FBN1 gene, which plays a crucial role in the formation and function of connective tissue throughout the body. Understanding the […]
Symptoms and Testing information for DLL4 Gene Adams-Oliver Syndrome Type 6 Genetic Test
Adams-Oliver Syndrome (AOS) is a rare genetic disorder characterized by the combination of scalp defects present at birth and abnormalities of the distal limbs. Among its subtypes, Type 6 is specifically associated with mutations in the DLL4 gene. DNA Labs UAE offers a comprehensive genetic test for this particular condition, aimed at providing crucial information […]
Symptoms and Testing information for TP63 Gene ADULT Syndrome Split Hand-Foot Malformation Genetic Test
Symptoms of TP63 Gene ADULT Syndrome Split Hand-Foot Malformation Genetic Test The TP63 gene plays a critical role in the development and differentiation of epithelial tissues, including skin, limbs, and several other organs. Mutations in the TP63 gene can lead to a spectrum of genetic disorders, among which ADULT syndrome and Split Hand-Foot Malformation (SHFM) […]
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 […]