Central Hypoventilation Syndrome (CHS), also known as Congenital Central Hypoventilation Syndrome (CCHS), is a rare genetic disorder that affects the autonomic control of breathing. Caused by mutations in the PHOX2B gene and, in rarer cases, the ZEB2 gene, this condition means that individuals affected by it do not automatically control their breathing to adequately respond […]
Dysmorphology Diseases
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 […]
Symptoms and Testing information for VANGL1 Gene Caudal Regression Syndrome Genetic Test
Symptoms of VANGL1 Gene Caudal Regression Syndrome Caudal Regression Syndrome (CRS) is a rare disorder that affects the development of the lower half of the body. The condition is associated with abnormalities in the lower spine, lower limbs, and, in some cases, the gastrointestinal and genitourinary systems. The VANGL1 gene has been identified as one […]
Symptoms and Testing information for BMP2 Gene Brachydactyly Type A2 Genetic Test
Brachydactyly Type A2 is a rare genetic condition characterized by the shortening of the bones in the fingers, particularly affecting the middle bone of the index finger and, in some cases, the little finger. This condition is primarily caused by mutations in the BMP2 gene. Recognizing the symptoms of this condition early on can significantly […]
Symptoms and Testing information for PHOX2B Gene Central Hypoventilation Syndrome with or Without Hirschsprung Disease Genetic Test
Central Hypoventilation Syndrome (CHS), also known as Congenital Central Hypoventilation Syndrome (CCHS), is a rare genetic disorder that affects the autonomic control of breathing. This condition is often associated with mutations in the PHOX2B gene. The syndrome can present itself with or without Hirschsprung disease, a condition that affects the large intestine and causes problems […]