Dysmorphology Diseases

Microcephaly with cortical malformations, Autosomal Recessive Type 2, is a rare genetic disorder caused by mutations in the WDR62 gene. This condition is characterized by significantly reduced head size (microcephaly) and abnormalities in the cerebral cortex, the part of the brain responsible for many important functions including memory, attention, perceptual awareness, thought, language, and consciousness. […]

In the realm of genetic diagnostics and personalized medicine, understanding the intricate details of specific genetic conditions is pivotal. One such condition that has garnered attention is the MASS syndrome, which is linked to mutations in the FBN1 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the FBN1 […]

In the realm of genetic testing and diagnosis, advancements have paved the way for the identification and management of rare genetic disorders. Among these, McLeod Syndrome, associated with or without Chronic Granulomatous Disease (CGD), presents a unique set of challenges and symptoms that necessitate comprehensive understanding and testing. DNA Labs UAE stands at the forefront […]

Lissencephaly, a rare, gene-linked brain malformation disorder, affects the development of the cerebral cortex. Among its types, Type 3, associated with mutations in the TUBA1A gene, presents a unique set of challenges and symptoms for those affected. DNA Labs UAE, a leading genetic laboratory, offers a comprehensive genetic test for TUBA1A Gene Lissencephaly Type 3, […]

Symptoms of PIK3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome PIK3R2 gene megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, often abbreviated as MPPH syndrome, is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the PIK3R2 gene, which plays a crucial role in cell growth, proliferation, and survival. The symptoms of this syndrome can vary significantly […]

Lissencephaly, meaning “smooth brain,” is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). Among the various types of lissencephaly, Type 5, associated with mutations in the LAMB1 gene, presents a unique set of challenges and symptoms for affected individuals and […]

Symptoms of AKT3 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Type 2 Genetic Test Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus (MPPH) Syndrome Type 2 is a rare genetic disorder primarily affecting the development of the brain. This condition is characterized by several key features, including an abnormally large brain (megalencephaly), irregularities in the brain’s surface (polymicrogyria), extra fingers or toes (polydactyly), and an accumulation […]

Understanding the symptoms associated with DCX Gene Lissencephaly X-Linked Type 1 is crucial for early diagnosis and management of the condition. DNA Labs UAE offers comprehensive genetic testing for this condition, which can be a critical step in managing and understanding this complex neurological disorder. Symptoms of DCX Gene Lissencephaly X-Linked Type 1 Lissencephaly, which […]

Meier-Gorlin syndrome (MGS) is a rare genetic disorder characterized by a spectrum of clinical features, including primordial dwarfism, microcephaly, and skeletal abnormalities. Among the genes associated with this condition, mutations in the ORC1 gene lead to Meier-Gorlin Syndrome Type 1. Recognizing the symptoms associated with this particular type of MGS is crucial for early diagnosis […]

At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help individuals and families understand their genetic makeup and manage their health proactively. One of the critical tests we offer is the ARX Gene Lissencephaly X-Linked Type 2 Genetic Test. This test is crucial for diagnosing a rare genetic disorder that […]