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Symptoms and Testing information for SAMD9 Gene Mirage Syndrome Genetic Test

Symptoms and Testing information for SAMD9 Gene Mirage Syndrome Genetic Test

— The SAMD9 gene plays a critical role in the normal functioning and regulation of cellular processes. Mutations in this gene can lead to a rare but serious condition known as MIRAGE Syndrome. This condition is characterized by a wide range of symptoms that can significantly impact the health and development of affected individuals. DNA […]

Symptoms and Testing information for ATP7A Gene Menkes Disease Genetic Test

Symptoms and Testing information for ATP7A Gene Menkes Disease Genetic Test

Menkes Disease, a rare genetic disorder, arises from a mutation in the ATP7A gene. This condition affects copper levels in the body, leading to severe developmental issues, neurological problems, and, in many cases, early childhood mortality. Understanding the symptoms and undergoing genetic testing can be crucial for early diagnosis and management of the disease. DNA […]

Symptoms and Testing information for B9D1 Gene Meckel Syndrome Type 9 Genetic Test

Symptoms and Testing information for B9D1 Gene Meckel Syndrome Type 9 Genetic Test

Meckel Syndrome, a rare genetic disorder, has puzzled and challenged medical professionals for years. It falls under the category of ciliopathies, which are disorders related to the dysfunction of cilia, tiny hair-like structures on cell surfaces. Among the genes implicated in this complex syndrome is B9D1, associated with Type 9 Meckel Syndrome. Recognizing the symptoms […]

Symptoms and Testing information for TCTN2 Gene Meckel Syndrome Type 8 Genetic Test

Symptoms and Testing information for TCTN2 Gene Meckel Syndrome Type 8 Genetic Test

Understanding the genetic underpinnings of rare diseases is crucial for early diagnosis and intervention. One such rare genetic disorder is Meckel Syndrome Type 8, which is associated with mutations in the TCTN2 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the TCTN2 Gene Meckel Syndrome Type 8 Genetic […]

Symptoms and Testing information for CEP290 Gene Meckel Syndrome Type 4 Genetic Test

Symptoms and Testing information for CEP290 Gene Meckel Syndrome Type 4 Genetic Test

Symptoms of CEP290 Gene Meckel Syndrome Type 4 Meckel Syndrome Type 4, caused by mutations in the CEP290 gene, is a rare genetic disorder that presents a spectrum of symptoms affecting multiple organ systems. This condition is part of a group of diseases known as ciliopathies, which are characterized by abnormalities in the function or […]

Symptoms and Testing information for TMEM67 Gene Meckel Syndrome Type 3 Genetic Test

Symptoms and Testing information for TMEM67 Gene Meckel Syndrome Type 3 Genetic Test

Meckel Syndrome (MS), also known as Meckel-Gruber Syndrome, is a rare genetic disorder characterized by a combination of anomalies affecting multiple organ systems. This disorder is classified into several types based on the genetic mutations that cause it, with Type 3 being specifically associated with mutations in the TMEM67 gene. Recognizing the symptoms of TMEM67 […]

Symptoms and Testing information for B9D2 Gene Meckel Syndrome Type 10 Genetic Test

Symptoms and Testing information for B9D2 Gene Meckel Syndrome Type 10 Genetic Test

Meckel Syndrome, also known as Meckel-Gruber Syndrome, is a rare genetic disorder that affects many parts of the body. This condition is characterized by the triad of renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Among the different types of Meckel Syndrome, Type 10 is caused by mutations in the B9D2 gene. Understanding the symptoms […]

Symptoms and Testing information for MKS1 Gene Meckel Syndrome Type 1 Genetic Test

Symptoms and Testing information for MKS1 Gene Meckel Syndrome Type 1 Genetic Test

Meckel Syndrome Type 1 (MKS1) is a rare, autosomal recessive genetic disorder that poses significant health challenges right from birth. It is characterized by a combination of symptoms that can affect various parts of the body, including the kidneys, liver, brain, and skeletal system. Understanding the symptoms and undergoing genetic testing for the MKS1 gene […]

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