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Symptoms and Testing information for PLCB4 Gene Auriculocondylar syndrome type 2 Genetic Test

Symptoms and Testing information for PLCB4 Gene Auriculocondylar syndrome type 2 Genetic Test

In the realm of genetic diagnostics, the evolution of testing methodologies has enabled the precise identification of syndromes that were once challenging to diagnose. Among these, Auriculocondylar syndrome type 2, a rare genetic disorder, has seen significant advancements in diagnosis thanks to the identification of its genetic basis. At DNA Labs UAE, we are at […]

Symptoms and Testing information for COL4A5 Gene Alport syndrome X-Linked Genetic Test

Symptoms and Testing information for COL4A5 Gene Alport syndrome X-Linked Genetic Test

Alport Syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It primarily affects the basement membranes of the kidneys, the inner ear, and the eyes, leading to progressive loss of kidney function and other symptoms. The condition is typically inherited in an X-linked manner, which means the gene responsible for […]

Symptoms and Testing information for MOCOS Gene Xanthinuria type 2 Genetic Test

Symptoms and Testing information for MOCOS Gene Xanthinuria type 2 Genetic Test

— Symptoms of MOCOS Gene Xanthinuria Type 2 Genetic Test Xanthinuria Type 2 is a rare genetic disorder caused by mutations in the MOCOS gene. This condition affects the body’s ability to metabolize purines, which are substances found in many foods. When purines are not properly metabolized, it leads to the accumulation of xanthine in […]

Symptoms and Testing information for XDH Gene Xanthinuria type 1 Genetic Test

Symptoms and Testing information for XDH Gene Xanthinuria type 1 Genetic Test

Xanthinuria type 1 is a rare genetic disorder that affects the body’s ability to metabolize certain purines, leading to an accumulation of xanthine. This condition is caused by mutations in the XDH gene, which encodes the enzyme xanthine dehydrogenase. Individuals with this condition can exhibit a range of symptoms, and early diagnosis is crucial for […]

Symptoms and Testing information for LIPA Gene Wolman disease Genetic Test

Symptoms and Testing information for LIPA Gene Wolman disease Genetic Test

Wolman Disease, a rare and serious genetic disorder, arises from mutations in the LIPA gene, which plays a crucial role in the body’s ability to break down certain fats. This condition, if not diagnosed and managed promptly, can lead to severe and life-threatening complications. DNA Labs UAE offers a comprehensive genetic test specifically designed to […]

Symptoms and Testing information for ATP7B Gene Wilson disease Genetic Test

Symptoms and Testing information for ATP7B Gene Wilson disease Genetic Test

Symptoms of ATP7B Gene Wilson Disease Genetic Test Wilson disease is a rare genetic disorder that is characterized by the accumulation of copper in the body’s tissues, leading to liver disease and neurological symptoms. The ATP7B gene is responsible for coding a protein that plays a crucial role in the transport of copper out of […]

Symptoms and Testing information for G6PC Gene Von-Gierke disease Genetic Test

Symptoms and Testing information for G6PC Gene Von-Gierke disease Genetic Test

Von Gierke disease, also known as Glycogen Storage Disease Type I (GSD I), is a rare genetic disorder that affects the way the body converts food into energy. This condition is caused by a deficiency in the enzyme glucose-6-phosphatase (G6PC), critical for maintaining normal blood sugar levels. Individuals with Von Gierke disease have difficulty breaking […]

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