Pulmonary fibrosis and bone marrow failure are severe conditions that significantly impact an individual’s quality of life. Understanding the genetic underpinnings of these diseases can provide crucial insights into their management and treatment. One such genetic factor is the TERT gene, which plays a vital role in telomere maintenance. Telomeres are protective caps at the […]
Osteology Diseases
Symptoms and Testing information for KIT Gene Piebaldism Genetic Test
Piebaldism is a rare genetic condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. This condition is primarily caused by mutations in the KIT gene, which plays a crucial role in the development and migration of melanocytes. Individuals with piebaldism typically present with distinct physical features from […]
Symptoms and Testing information for SNAI2 Gene Piebaldism Genetic Test
In the realm of genetic testing, advancements have allowed us to identify and understand the implications of various genetic markers on our health and physical appearance. One such condition that has garnered attention is Piebaldism, a rare autosomal dominant disorder characterized by the absence of melanocytes in certain areas of the skin and hair. The […]
Symptoms and Testing information for CARD14 Gene Pityriasis Rubra Pilaris Genetic Test
Pityriasis Rubra Pilaris (PRP) is a rare skin disorder that can cause significant discomfort and skin changes in those affected. It is characterized by a unique set of symptoms that can vary in severity and duration. Understanding these symptoms is crucial for early diagnosis and effective management of the condition. One of the breakthroughs in […]
Symptoms and Testing information for KRT16 Gene Pachyonychia Congenita Type 1 Genetic Test
Pachyonychia Congenita (PC) is a rare genetic disorder that primarily affects the skin and nails. It is caused by mutations in several genes, including the KRT16 gene, which plays a crucial role in the development and maintenance of the skin and its appendages. DNA Labs UAE offers a comprehensive genetic test for the KRT16 gene […]
Symptoms and Testing information for KRT17 Gene Pachyonychia Congenita Type 2 Genetic Test
Pachyonychia Congenita (PC) is a rare genetic disorder that primarily affects the skin and nails. Among the various types, Type 2, also known as Jackson-Lawler type, is distinguished by its genetic cause, mutations in the KRT17 gene. Recognizing the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a […]
Symptoms and Testing information for KRT6A Gene Pachyonychia Congenita Type 3 Genetic Test
Pachyonychia Congenita (PC) is a rare genetic disorder that primarily affects the skin and nails. It is characterized by a variety of symptoms that can significantly impact the quality of life of those affected. One specific subtype of this condition, known as Pachyonychia Congenita Type 3, is linked to mutations in the KRT6A gene. Understanding […]
Symptoms and Testing information for KRT6B Gene Pachyonychia Congenita Type 4 Genetic Test
Pachyonychia Congenita (PC) is a rare genetic disorder that affects the skin and nails. It is typically inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for a person to be affected by the condition. There are several types of PC, categorized based on the specific gene […]
Symptoms and Testing information for SQSTM1 Gene Paget Disease of Bone Genetic Test
Paget’s Disease of Bone, also known as Osteitis Deformans, is a chronic disorder that can result in enlarged and misshapen bones. Due to the disease’s complexity, it can lead to a range of symptoms, some of which may severely impact an individual’s quality of life. One of the key genetic markers linked to this condition […]
Symptoms and Testing information for AMER1 Gene Osteopathia Striata with Cranial Sclerosis Genetic Test
Osteopathia Striata with Cranial Sclerosis (OSCS) is a rare genetic disorder that affects the bones, leading to a combination of linear striations in the long bones and sclerosis of the skull. This condition is associated with mutations in the AMER1 gene, which plays a crucial role in bone development and growth. Understanding the symptoms of […]