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Symptoms and Testing information for CD59 Gene Hemolytic anemia CD59-mediated with or without immune-mediated polyneuropathy Genetic Test

Symptoms and Testing information for CD59 Gene Hemolytic anemia CD59-mediated with or without immune-mediated polyneuropathy Genetic Test

Symptoms of CD59 Gene Hemolytic Anemia CD59-Mediated with or Without Immune-Mediated Polyneuropathy Hemolytic anemia caused by mutations in the CD59 gene, with or without associated immune-mediated polyneuropathy, is a rare but serious condition. This genetic disorder impacts the body’s ability to protect red blood cells from being destroyed by the immune system, leading to a […]

Symptoms and Testing information for PEX1 Gene Heimler syndrome type 1 Genetic Test

Symptoms and Testing information for PEX1 Gene Heimler syndrome type 1 Genetic Test

Symptoms of PEX1 Gene Heimler Syndrome Type 1 Heimler Syndrome is a rare genetic disorder, classified under the broader category of peroxisomal biogenesis disorders. It is primarily associated with mutations in the PEX1 gene. Individuals affected by Heimler Syndrome type 1 exhibit a range of symptoms that can significantly impact their quality of life. Recognizing […]

Symptoms and Testing information for CTSC Gene Haim-Munk syndrome Genetic Test

Symptoms and Testing information for CTSC Gene Haim-Munk syndrome Genetic Test

In the realm of genetic testing, advancements have paved the way for the identification and understanding of various genetic disorders, one of which is Haim-Munk syndrome. This rare autosomal recessive disorder is characterized by a spectrum of symptoms that can significantly impact the quality of life of those affected. At DNA Labs UAE, we offer […]

Symptoms and Testing information for MLPH Gene Griscelli syndrome type 3 Genetic Test

Symptoms and Testing information for MLPH Gene Griscelli syndrome type 3 Genetic Test

Griscelli syndrome is a rare genetic disorder that affects multiple systems in the body, including the immune system, nervous system, and skin pigmentation. Among its three types, Griscelli syndrome type 3, specifically caused by mutations in the MLPH gene, predominantly affects the pigmentation of the skin and hair, leading to a distinctive appearance without the […]

Symptoms and Testing information for MYO5A Gene Griscelli syndrome type 1 Genetic Test

Symptoms and Testing information for MYO5A Gene Griscelli syndrome type 1 Genetic Test

Griscelli syndrome is a rare genetic disorder characterized by a distinct set of symptoms, primarily affecting the skin and the immune system. Among its types, Griscelli syndrome type 1 is specifically associated with mutations in the MYO5A gene. This condition, while rare, requires early diagnosis and appropriate management to improve the quality of life of […]

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 […]

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 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 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 […]

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