In the realm of genetic testing, advancements have brought to light numerous conditions that were once shrouded in mystery. Among these, SESAME Syndrome stands out due to its rarity and the complexity of its symptoms. This condition, which is linked to mutations in the KCNJ10 gene, presents a unique set of challenges to both patients […]
Neurology Diseases
Symptoms and Testing information for KIF5A Gene SPG10 Genetic Test
The KIF5A gene plays a crucial role in the body, especially concerning the nervous system’s development and function. Mutations in this gene can lead to a condition known as Spastic Paraplegia 10 (SPG10), a form of hereditary spastic paraplegia. This disorder primarily affects the lower extremities, leading to progressive weakness and spasticity. Understanding the symptoms […]
Symptoms and Testing information for SLC17A5 Gene Sialuria Finnish Type Genetic Test
The SLC17A5 gene is crucial for the proper functioning of the human body, particularly in the development and maintenance of healthy cells. Mutations in this gene can lead to a rare condition known as Sialuria Finnish type, which can have significant health implications for affected individuals. DNA Labs UAE offers a comprehensive genetic test for […]
Symptoms and Testing information for SPG11 Gene SPG11 Genetic Test
SPG11, also known as spastic paraplegia 11, is a genetic condition that affects the nervous system, leading to a range of symptoms that primarily involve spasticity and weakness of the legs. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each […]
Symptoms and Testing information for GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 Genetic Test
Simpson-Golabi-Behmel Syndrome (SGBS) Type 1 is a rare genetic condition that primarily affects males. It is characterized by pre- and postnatal overgrowth with a range of physical anomalies and variable cognitive impacts. This condition is caused by mutations in the GPC3 gene, which plays a crucial role in regulating cellular growth and division. Understanding the […]
Symptoms and Testing information for RTN2 Gene SPG12 Genetic Test
In the realm of genetic diagnostics, the understanding and identification of specific gene mutations have paved the way for targeted treatments and preventive measures for numerous hereditary conditions. One such condition that has garnered attention in the medical community is linked to the RTN2 gene, known as Spastic Paraplegia 12 (SPG12). DNA Labs UAE is […]
Symptoms and Testing information for ALDH3A2 Gene Sjogren-Larsson Syndrome Genetic Test
Sjogren-Larsson Syndrome (SLS) is a rare genetic disorder that affects the skin, nervous system, and eyes. It is caused by mutations in the ALDH3A2 gene, which plays a crucial role in the metabolism of fatty alcohols in the body. The symptoms of Sjogren-Larsson Syndrome can vary widely among affected individuals but typically include ichthyosis (scaly […]
Symptoms and Testing information for ARHGEF10 Gene Slowed Nerve Conduction Velocity Autosomal Dominant Genetic Test
— The ARHGEF10 gene plays a crucial role in the development and function of the peripheral nervous system. Mutations in this gene have been linked to slowed nerve conduction velocity, a condition that affects the speed at which electrical signals travel along the nerves. This autosomal dominant trait means that only one copy of the […]
Symptoms and Testing information for RAI1 Gene Smith-Magenis Syndrome Genetic Test
Smith-Magenis Syndrome (SMS) is a complex developmental disorder that affects many parts of the body. It is characterized by a distinctive pattern of physical, behavioral, and developmental features. This condition is caused by mutations in the RAI1 gene or by deletions of genetic material from a specific region of chromosome 17, which includes the RAI1 […]
Symptoms and Testing information for ULK2 Gene Smith-Magenis Syndrome ULK2 Related Genetic Test
DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive range of services designed to provide individuals with crucial insights into their genetic makeup. Among the various tests offered, the ULK2 Gene Smith-Magenis Syndrome ULK2 Related Genetic Test is particularly significant for those affected by or at risk of Smith-Magenis Syndrome (SMS), […]