— 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 […]
Dysmorphology Diseases
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 […]
Symptoms and Testing information for DHODH Gene Postaxial Acrofacial Dysostosis Genetic Test
In the intricate world of genetics, understanding the underlying causes of various congenital conditions is paramount for early diagnosis and effective management. One such condition that has garnered attention within the scientific and medical communities is Postaxial Acrofacial Dysostosis (PAD), a disorder that affects the development of the face, limbs, and other body parts. At […]
Symptoms and Testing information for NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test
Symptoms of NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test Pitt-Hopkins Syndrome is a rare genetic condition that affects various parts of the body, including the nervous system. It is characterized by developmental delays, moderate to severe intellectual disability, and distinctive facial features. The condition is caused by mutations in the NRXN1 gene, which plays a crucial […]
Symptoms and Testing information for PEPD Gene Prolidase Deficiency Genetic Test
In the realm of genetic disorders, Prolidase Deficiency (PD) is a rare but impactful condition that can affect individuals from a very young age. DNA Labs UAE, a premier genetic laboratory, offers comprehensive testing for this condition through the PEPD Gene Prolidase Deficiency Genetic Test. This detailed examination is pivotal in diagnosing the disorder, allowing […]
Symptoms and Testing information for TCF4 Gene Pitt-Hopkins Syndrome Genetic Test
Pitt-Hopkins Syndrome (PTHS) is a rare genetic condition characterized by developmental delays, possible breathing problems, recurrent seizures (epilepsy), and distinctive facial features. The syndrome is caused by mutations in the TCF4 gene, which plays a crucial role in the development of the nervous system. Early diagnosis and intervention are key to managing the symptoms and […]