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 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 […]
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 […]
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 […]
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 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 […]
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 […]
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 […]
Prune Belly Syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare, genetic disorder characterized by a set of distinctive physical features and symptoms. The syndrome is named for the wrinkled appearance of the abdominal wall, resembling a prune, which is due to the lack of abdominal muscles. Recent advancements in genetics have pinpointed mutations […]
In the realm of genetic diagnostics and precision medicine, understanding the intricacies of specific gene mutations and their associated disorders is paramount. One such critical gene is the POU1F1, which plays a significant role in the development and function of the pituitary gland. Mutations in the POU1F1 gene can lead to Pituitary Hormone Deficiency Type […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
