Symptoms and Testing information for ANO5 Gene Gnathodiaphyseal dysplasia Genetic Test

Symptoms and Testing information for ANO5 Gene Gnathodiaphyseal dysplasia Genetic Test

Understanding the complexities of genetic conditions is crucial for early diagnosis and effective management. Among the various genetic disorders, Gnathodiaphyseal Dysplasia, linked to mutations in the ANO5 gene, presents unique challenges and symptoms. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the ANO5 gene, providing essential information for individuals […]

Symptoms and Testing information for FAM111A Gene Gracile bone dysplasia Genetic Test

Symptoms and Testing information for FAM111A Gene Gracile bone dysplasia Genetic Test

Gracile bone dysplasia, a rare genetic disorder, presents a significant challenge for affected individuals and their families. This condition, characterized by extremely slender bones and other skeletal anomalies, is caused by mutations in the FAM111A gene. Understanding the symptoms and genetic underpinnings of gracile bone dysplasia is crucial for early diagnosis and management. DNA Labs […]

Symptoms and Testing information for NCF1 Gene Granulomatous disease chronic autosomal recessive cytochrome b- positive type 1 Genetic Test

Symptoms and Testing information for NCF1 Gene Granulomatous disease chronic autosomal recessive cytochrome b- positive type 1 Genetic Test

Chronic Granulomatous Disease (CGD) is a rare and potentially life-threatening condition that affects the immune system’s ability to fight off certain infections. Among the genetic mutations leading to CGD, mutations in the NCF1 gene are responsible for a specific subtype known as “Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-positive type 1” (CGD-AR-CYBB1). Recognizing the symptoms […]

Symptoms and Testing information for CYBA Gene Granulomatous disease chronic autosomal recessive cytochrome b-negative Genetic Test

Symptoms and Testing information for CYBA Gene Granulomatous disease chronic autosomal recessive cytochrome b-negative Genetic Test

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative, commonly referred to as CYBA gene-related granulomatous disease, is a rare genetic disorder that affects the immune system. It is characterized by an inability of phagocytes, a type of white blood cell, to produce a burst of reactive oxygen species (ROS) needed to kill certain ingested pathogens. This […]

Symptoms and Testing information for NCF2 Gene Granulomatous disease chronic autosomal recessive cytochrome b-positive type 2 Genetic Test

Symptoms and Testing information for NCF2 Gene Granulomatous disease chronic autosomal recessive cytochrome b-positive type 2 Genetic Test

Understanding NCF2 Gene Granulomatous Disease Chronic Granulomatous Disease (CGD) is a rare and inherited disorder that affects the immune system’s ability to fight off certain infections. Among the various types of CGD, the autosomal recessive cytochrome b-positive type 2, caused by mutations in the NCF2 gene, stands out due to its unique characteristics and inheritance […]

Symptoms and Testing information for NCF4 Gene Granulomatous disease chronic autosomal recessive cytochrome b-positive type 3 Genetic Test

Symptoms and Testing information for NCF4 Gene Granulomatous disease chronic autosomal recessive cytochrome b-positive type 3 Genetic Test

Chronic Granulomatous Disease (CGD) is a rare and serious genetic disorder that affects the immune system. Among the types of CGD, the Autosomal Recessive Cytochrome b-Positive Type 3, linked to mutations in the NCF4 gene, is one of the less common forms. Patients with this condition have immune systems that struggle to fight off certain […]

Symptoms and Testing information for COL11A2 Gene Fibrochondrogenesis 2 Genetic Test

Symptoms and Testing information for COL11A2 Gene Fibrochondrogenesis 2 Genetic Test

Fibrochondrogenesis 2 is a rare genetic disorder that arises from mutations in the COL11A2 gene. This condition is characterized by a range of symptoms that affect the skeletal system, leading to significant health challenges from birth. Understanding the symptoms and the availability of genetic testing is crucial for early diagnosis and management of the condition. […]

Symptoms and Testing information for COL11A1 Gene Fibrochondrogenesis type 1 Genetic Test

Symptoms and Testing information for COL11A1 Gene Fibrochondrogenesis type 1 Genetic Test

Fibrochondrogenesis type 1 is a rare genetic disorder that significantly affects the development of the skeletal system. This condition is caused by mutations in the COL11A1 gene, which plays a crucial role in the formation of collagen, a fundamental protein in the body’s connective tissues. Recognizing the symptoms of this disorder early on can lead […]

Symptoms and Testing information for LBR Gene Greenberg skeletal dysplasia Genetic Test

Symptoms and Testing information for LBR Gene Greenberg skeletal dysplasia Genetic Test

Greenberg skeletal dysplasia, also known as HEM skeletal dysplasia, is a rare genetic disorder that affects the development of bones and other tissues in the body. This condition is caused by mutations in the LBR gene, which plays a crucial role in the structure and function of the nuclear envelope. Individuals with Greenberg skeletal dysplasia […]

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