Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In polymicrogyria, the brain develops too many folds, and these folds are unusually small. The TUBB2B gene plays a significant role in this condition, particularly in cases of asymmetric […]
Dysmorphology Diseases
Symptoms and Testing information for ADGRG1 Gene Polymicrogyria Bilateral Frontoparietal Genetic Test
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In polymicrogyria, the brain develops too many folds, and these folds are unusually small. The ADGRG1 gene has been identified as one of the genetic contributors to polymicrogyria, specifically […]
Symptoms and Testing information for NR2E1 Gene Polymicrogyria Bilateral Occipital Genetic Test
Polymicrogyria (PMG) is a condition characterized by abnormal development of the brain before birth. The cerebral cortex, which is the brain’s outer layer responsible for many of its complex functions, develops too many small folds and fails to develop its normal grooves. One specific type of this condition, which involves the NR2E1 gene, leads to […]
Symptoms and Testing information for TUBA8 Gene Polymicrogyria with Optic Nerve Hypoplasia Genetic Test
At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help individuals and families understand their genetic makeup and potential health risks. One specific area of our expertise is the diagnosis of rare genetic disorders, including conditions such as polymicrogyria with optic nerve hypoplasia, linked to mutations in the TUBA8 gene. […]
Symptoms and Testing information for PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis Genetic Test
— Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis is a complex genetic condition that affects the development of the human brain and musculoskeletal system. This condition, caused by mutations in the PI4KA gene, leads to a range of developmental and neurological challenges. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, ensuring […]
Symptoms and Testing information for IRF6 Gene Popliteal Pterygium Syndrome Type 1 Genetic Test
Popliteal Pterygium Syndrome (PPS) Type 1 is a rare genetic disorder that significantly impacts those affected and their families. At the core of this condition lies a mutation in the IRF6 gene, a crucial factor in the development of various body parts during embryonic growth. Understanding the symptoms of this condition is vital for early […]
Symptoms and Testing information for RIPK4 Gene Popliteal Pterygium Syndrome Lethal Type Genetic Test
Popliteal Pterygium Syndrome (PPS) Lethal Type is a rare genetic disorder that can cause severe developmental anomalies in affected individuals. This condition is characterized by a range of physical manifestations, including skin webbing behind the knees, cleft lip or palate, genital abnormalities, and more. The lethal type of PPS is particularly severe and is caused […]
Symptoms and Testing information for COL4A1 Gene Porencephaly Familial Genetic Test
Symptoms of COL4A1 Gene Porencephaly Familial Genetic Test Porencephaly, a rare neurological disorder, is often associated with mutations in the COL4A1 gene. This condition can lead to a variety of symptoms and challenges for those affected. Understanding these symptoms is crucial for early diagnosis and management. The COL4A1 gene plays a significant role in the […]
Symptoms and Testing information for LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test
Understanding the symptoms of LAMA1 gene Poretti-Boltshauser syndrome is crucial for early diagnosis and management of this rare genetic condition. The LAMA1 gene plays a significant role in the development and functioning of the cerebellum, which is a part of the brain responsible for coordinating movement and maintaining balance. Mutations in the LAMA1 gene can […]
Symptoms and Testing information for Chr. 22q13.3 Gene Phelan-McDermid Syndrome Genetic Test
Phelan-McDermid Syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare genetic condition that results from the deletion or mutation of the SHANK3 gene on chromosome 22. This condition affects various parts of the body and leads to a wide range of symptoms. Understanding these symptoms is crucial for early diagnosis and intervention, which […]