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Symptoms and Testing information for PLEC Gene Epidermolysis bullosa simplex with pyloric atresia Genetic Test

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a rare genetic disorder characterized by fragile skin that easily blisters and pyloric atresia, which is a blockage of the stomach to the intestines. This condition is caused by mutations in the PLEC gene, which plays a crucial role in the integrity and function of skin cells

Symptoms and Testing information for PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive Genetic Test

Cutis Laxa is a rare genetic disorder that affects the connective tissue in the body, leading to loose, sagging skin, and in some cases, affecting internal organs. One specific type of this condition, Cutis Laxa Type 2B, is caused by mutations in the PYCR1 gene and is inherited in an autosomal recessive pattern. This means

Symptoms and Testing information for SMC1A Gene Cornelia de Lange Syndrome Type 2 Genetic Test

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects various parts of the body. Among the genes associated with this syndrome, mutations in the SMC1A gene lead to a specific subtype known as Cornelia de Lange Syndrome Type 2. Recognizing the symptoms associated with this condition is crucial for early diagnosis and

Symptoms and Testing information for SMC3 Gene Cornelia de Lange Syndrome Type 3 Genetic Test

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and limb defects. Among the genes associated with this condition, mutations in the SMC3 gene have been identified to cause a specific subtype of the syndrome,

Symptoms and Testing information for RAD21 Gene Cornelia de Lange Syndrome Type 4 Genetic Test

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. This condition is known for its distinctive facial features, growth delays, intellectual disability, and limb defects. Among the genes associated with CdLS, the RAD21 gene plays a critical role. Mutations in the RAD21 gene can lead to

Symptoms and Testing information for PTPN14 Gene Choanal Atresia and Lymphedema Genetic Test

Choanal atresia and lymphedema are two conditions that can significantly impact an individual’s quality of life. These conditions can be challenging to diagnose, especially in their early stages. However, advancements in genetic testing have made it possible to identify specific genes associated with these conditions, providing hope and clarity for affected individuals and their families.

Symptoms and Testing information for PIEZO2 Gene Arthrogryposis Distal Type 3 Genetic Test

Understanding the genetic underpinnings of various conditions is critical for accurate diagnosis and effective treatment. One such condition that has garnered attention in the medical community is Arthrogryposis Distal Type 3, which is linked to mutations in the PIEZO2 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the

Symptoms and Testing information for ECEL1 Gene Arthrogryposis Distal Type 5D Genetic Test

In the realm of genetic testing and diagnostics, understanding the nuances of specific conditions is pivotal for both patients and healthcare providers. One such condition that has garnered attention due to its rarity and the complexity of its symptoms is Arthrogryposis Distal Type 5D, associated with mutations in the ECEL1 gene. At DNA Labs UAE,

Symptoms and Testing information for MYH8 Gene Arthrogryposis Distal Type 7 Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide insights into various genetic conditions. One such test available through DNA Labs UAE is for the MYH8 Gene Arthrogryposis Distal Type 7, a condition that can significantly impact individuals and their families. Understanding the

Symptoms and Testing information for SF3B4 Gene Acrofacial Dysostosis 1 Nager Type Genetic Test

Acrofacial Dysostosis 1, Nager Type, is a rare genetic disorder that affects various parts of the body, including the face, hands, and arms. This condition is primarily caused by mutations in the SF3B4 gene, which plays a crucial role in the development of these body parts during embryonic growth. Recognizing the symptoms early on can