— MECP2 gene mutations can lead to several neurological disorders, one of which is Central Hypoventilation Syndrome (CCHS), also known as congenital central hypoventilation syndrome. This rare condition affects the autonomic control of breathing, meaning individuals with CCHS have difficulty sensing low oxygen or high carbon dioxide levels in their blood, particularly during sleep. Understanding […]
Dysmorphology Diseases
Symptoms and Testing information for SOX9 Gene Campomelic Dysplasia Genetic Test
Understanding Campomelic Dysplasia and the Role of the SOX9 Gene Campomelic Dysplasia is a rare genetic disorder that affects the development of the skeleton and reproductive system. The condition is characterized by bowed long bones in the legs and arms, among other skeletal anomalies, and often leads to life-threatening complications. At the heart of this […]
Symptoms and Testing information for PRG4 Gene Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Genetic Test
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis (CACP) Syndrome is a rare genetic disorder that affects various parts of the body, including the fingers, joints, hips, and heart. The condition is caused by mutations in the PRG4 gene, which plays a crucial role in the lubrication of joints. Individuals with CACP syndrome experience a range of symptoms, from joint stiffness […]
Symptoms and Testing information for TGFB1 Gene Camurati-Engelmann Disease Genetic Test
Camurati-Engelmann Disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder that primarily affects the bones. Individuals with this condition often experience bone pain, muscle weakness, and a waddling gait, among other symptoms. The disease is caused by mutations in the TGFB1 gene, which plays a crucial role in bone development and […]
Symptoms and Testing information for ABCC9 Gene Cantu Syndrome Genetic Test
Cantu Syndrome, a rare genetic condition, has captured the attention of medical researchers and families alike due to its unique set of symptoms and challenges. At DNA Labs UAE, we are committed to providing comprehensive information and advanced genetic testing services, including the ABCC9 Gene Cantu Syndrome Genetic Test, to help families and physicians better […]
Symptoms and Testing information for RAB23 Gene Carpenter Syndrome Genetic Test
In the realm of genetic testing and diagnosis, the advancements have been nothing short of revolutionary. Among the myriad of genetic conditions that can now be identified through sophisticated testing, Carpenter Syndrome stands out due to its rarity and the complexity of its symptoms. DNA Labs UAE is at the forefront of providing comprehensive genetic […]
Symptoms and Testing information for MEGF8 Gene Carpenter Syndrome Type 2 Genetic Test
Carpenter Syndrome, also known as Acrocephalopolysyndactyly Type II, is a rare genetic disorder that affects multiple parts of the body, including the skull, fingers, toes, heart, and obesity. It is a subtype of a broader category of diseases known as ciliopathies, which are disorders associated with defects in the structure or function of cilia, the […]
Symptoms and Testing information for ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 Genetic Test
Bone marrow failure syndromes represent a group of disorders characterized by the bone marrow’s inability to produce sufficient blood cells. Among these, a particular interest has been shown in the genetic underpinnings of these syndromes, leading to the identification of specific genes associated with these conditions. One such gene is ERCC6L2, mutations in which have […]
Symptoms and Testing information for IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test
Understanding the Complexities of IARS2-Related Disorders The IARS2 gene is associated with a spectrum of disorders that can affect individuals from infancy through adulthood. These disorders are often complex, involving multiple body systems, and can present a wide range of symptoms. The IARS2 gene plays a critical role in the normal development and functioning of […]
Symptoms and Testing information for GDF5 Gene Brachydactyly Type A1C Genetic Test
Brachydactyly Type A1C is a rare genetic condition that affects the development of the bones in the hands and feet, leading to shorter than normal fingers and toes. This condition is caused by mutations in the GDF5 gene, which plays a crucial role in the development of bones and joints. Understanding the symptoms and undergoing […]