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 SRCAP Gene Floating-Harbor syndrome Genetic Test

Symptoms and Testing information for SRCAP Gene Floating-Harbor syndrome Genetic Test

Floating-Harbor syndrome is a rare genetic disorder characterized by a variety of symptoms and physical features. This condition, which affects individuals from birth, is often diagnosed through genetic testing, specifically targeting the SRCAP gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the SRCAP Gene Floating-Harbor Syndrome Genetic Test. […]

Symptoms and Testing information for PORCN Gene Focal dermal hypoplasia Genetic Test

Symptoms and Testing information for PORCN Gene Focal dermal hypoplasia Genetic Test

Focal Dermal Hypoplasia, also known as Goltz Syndrome, is a rare genetic disorder that affects multiple body systems. This condition is primarily characterized by abnormalities in the development of the skin, skeleton, eyes, and occasionally other areas. The PORCN gene plays a critical role in the development of these tissues, and mutations in this gene […]

Symptoms and Testing information for SH3PXD2B Gene Frank-ter Haar syndrome Genetic Test

Symptoms and Testing information for SH3PXD2B Gene Frank-ter Haar syndrome Genetic Test

Frank-ter Haar syndrome is a rare genetic disorder that presents a variety of symptoms and challenges for those affected by it. This syndrome is caused by mutations in the SH3PXD2B gene, which plays a crucial role in the development and maintenance of bone, heart, and eye tissues. Recognizing the symptoms early on can lead to […]

Symptoms and Testing information for ADAMTSL2 Gene Geleophysic dysplasia type 1 Genetic Test

Symptoms and Testing information for ADAMTSL2 Gene Geleophysic dysplasia type 1 Genetic Test

Geleophysic dysplasia type 1 is a rare genetic disorder that affects various parts of the body, including the skeleton, heart, and facial features. This condition is caused by mutations in the ADAMTSL2 gene, which plays a crucial role in the development and maintenance of connective tissue. Recognizing the symptoms early on can significantly impact the […]

Symptoms and Testing information for GORAB Gene Geroderma osteodysplasticum Genetic Test

Symptoms and Testing information for GORAB Gene Geroderma osteodysplasticum Genetic Test

Geroderma osteodysplasticum is a rare genetic disorder that is characterized by skin laxity and a prematurely aged appearance, as well as skeletal abnormalities. This condition is caused by mutations in the GORAB gene, which plays a crucial role in the development and maintenance of connective tissue. Understanding the symptoms associated with this disorder is essential […]

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 […]

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