Symptoms and Testing information for ALS2 Gene Spastic Paralysis Infantile Onset Ascending Genetic Test

Symptoms and Testing information for ALS2 Gene Spastic Paralysis Infantile Onset Ascending Genetic Test

Understanding the symptoms and genetic underpinnings of rare neurological disorders is crucial for early diagnosis and management. Among these conditions, a particular focus has been placed on the ALS2 gene-related disorder, known as Spastic Paralysis Infantile Onset Ascending (SPIA). This genetic condition, although rare, presents a significant impact on the quality of life of affected […]

Symptoms and Testing information for KCNQ3 Gene Seizures Benign Neonatal Type 2 Genetic Test

Symptoms and Testing information for KCNQ3 Gene Seizures Benign Neonatal Type 2 Genetic Test

In the realm of genetic testing and diagnosis, the advancements in understanding and identifying specific gene mutations have opened new pathways for managing and treating various conditions. One such area of significant development is in the field of neurology, specifically concerning seizures that occur in the neonatal period. A particular gene of interest in this […]

Symptoms and Testing information for L1CAM Gene SPG1 Genetic Test

Symptoms and Testing information for L1CAM Gene SPG1 Genetic Test

Understanding the nuances of genetic conditions is crucial for early diagnosis and management. Among these, the L1CAM gene mutation, leading to a condition known as SPG1, is of particular interest. The L1CAM gene plays a significant role in the nervous system’s development, influencing nerve cell adhesion and axon guidance. Mutations in this gene can lead […]

Symptoms and Testing information for KCNJ10 Gene SESAME Syndrome Genetic Test

Symptoms and Testing information for KCNJ10 Gene SESAME Syndrome Genetic Test

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 […]

Symptoms and Testing information for KIF5A Gene SPG10 Genetic Test

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

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

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

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 […]

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