Symptoms and Testing information for TUBB2B Gene Polymicrogyria Asymmetric Genetic Test

Symptoms and Testing information for TUBB2B Gene Polymicrogyria Asymmetric 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 TUBB2B gene plays a significant role in this condition, particularly in cases of asymmetric […]

Symptoms and Testing information for PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis Genetic Test

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 COL4A1 Gene Porencephaly Familial Genetic Test

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

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

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 […]

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