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Symptoms and Testing information for FAM20C Gene Raine Syndrome Genetic Test

FAM20C gene mutations are the primary cause of Raine Syndrome, a rare genetic disorder. This condition, also known as Raine Syndrome, is characterized by a variety of symptoms that can affect individuals from birth. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, providing crucial information for affected families. The cost of

Symptoms and Testing information for ZMPSTE24 Gene Restrictive Dermopathy Lethal Genetic Test

Restrictive Dermopathy (RD) is a rare and lethal genetic disorder, presenting a significant challenge for both affected families and medical professionals. It is characterized by tight and rigid skin, which leads to a range of severe physical limitations and health complications. At the core of this condition is a mutation in the ZMPSTE24 gene, a

Symptoms and Testing information for CHRNG Gene Pterygium Syndrome Genetic Test

Symptoms of CHRNG Gene Pterygium Syndrome Pterygium Syndrome, linked to mutations in the CHRNG gene, is a rare genetic disorder with a spectrum of symptoms affecting individuals differently. The CHRNG gene plays a crucial role in the development and function of the neuromuscular junction, and mutations in this gene can lead to a range of

Symptoms and Testing information for ITGA3 Gene Interstitial Lung Disease Nephrotic Syndrome and Epidermolysis Bullosa Congenita Genetic Test

Symptoms of ITGA3 Gene Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa Congenita The ITGA3 gene plays a crucial role in the proper development and functioning of various organs in the human body, including the skin, lungs, and kidneys. Mutations in the ITGA3 gene can lead to a complex spectrum of diseases, including Interstitial Lung

Symptoms and Testing information for ELOVL4 Gene Ichthyosis spastic quadriplegia and mental retardation Genetic Test

Understanding the complexities of genetic conditions is essential for both patients and medical professionals. One such complex condition is associated with mutations in the ELOVL4 gene, leading to a rare and severe syndrome characterized by ichthyosis, spastic quadriplegia, and mental retardation. This condition represents a significant challenge in the field of medical genetics, emphasizing the

Symptoms and Testing information for SLC27A4 Gene Ichthyosis prematurity syndrome Genetic Test

Symptoms of SLC27A4 Gene Ichthyosis Prematurity Syndrome Ichthyosis prematurity syndrome (IPS) is a rare genetic condition that is caused by mutations in the SLC27A4 gene. This condition is characterized by a range of symptoms that primarily affect the skin, but can also impact other systems within the body. Understanding the symptoms of IPS is crucial

Symptoms and Testing information for DSP Gene Epidermolysis bullosa lethal acantholytic Genetic Test

Epidermolysis Bullosa (EB) is a group of rare genetic skin disorders that cause the skin to become very fragile. Among the various types of EB, the DSP Gene Epidermolysis Bullosa Lethal Acantholytic is one of the most severe forms. This condition is caused by mutations in the DSP gene, which plays a critical role in

Symptoms and Testing information for MMP1 Gene Epidermolysis bullosa dystrophica autosomal recessive modifier of Genetic Test

Epidermolysis bullosa dystrophica (EBD) is a rare genetic disorder that causes the skin to be very fragile and to blister easily. Among the genes associated with this condition, the MMP1 gene has been identified as a significant modifier, especially in its autosomal recessive form. Understanding the symptoms and the genetic aspects of this condition is

Symptoms and Testing information for ITGA6 Gene Epidermolysis bullosa junctionalis with pyloric atresia Genetic Test

Epidermolysis bullosa (EB) is a group of rare diseases that cause fragile, blistering skin. The condition can vary from mild to severe, and it often manifests shortly after birth. One specific subtype of this condition, known as epidermolysis bullosa junctionalis with pyloric atresia (EB-JPA), is a rare but severe form that not only affects the

Symptoms and Testing information for ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia Genetic Test

Epidermolysis Bullosa Junctionalis with Pyloric Atresia (EB-PA) is a rare genetic disorder that presents a considerable challenge to affected individuals and their families. This condition, resulting from mutations in the ITGB4 gene, manifests through a combination of skin blistering and gastrointestinal issues from birth. Understanding the symptoms and the availability of genetic testing can provide