In the realm of genetic testing, advancements have paved the way for the identification and understanding of numerous genetic disorders that were once shrouded in mystery. Among these, Spinocerebellar Ataxia Type 12 (SCA12), caused by mutations in the PPP2R2B gene, stands out due to its unique symptoms and inheritance pattern. DNA Labs UAE is at the forefront of offering a comprehensive PPP2R2B Gene Spinocerebellar Ataxia Type 12 Autosomal Dominant Genetic Test, which is crucial for individuals seeking clarity on their genetic health, particularly if they have a family history of the condition.
Understanding PPP2R2B Gene Spinocerebellar Ataxia Type 12
Spinocerebellar Ataxia Type 12 (SCA12) is a neurodegenerative disorder characterized by progressive loss of coordination, tremor, and a variety of other neurological symptoms. It is caused by a mutation in the PPP2R2B gene, which plays a significant role in the development and function of the brain, particularly in the cerebellum, the part responsible for coordinating movements. This mutation leads to the abnormal expansion of a CAG trinucleotide repeat within the gene, causing the neurological manifestations of SCA12.
Symptoms of SCA12
The symptoms of SCA12 can vary widely among affected individuals but generally include:
- Progressive ataxia or loss of coordination and balance, which may begin with unsteady gait and progress to a severe difficulty in walking or standing.
- Action tremor, which is a tremor that occurs during voluntary movements.
- Slow saccades or delayed eye movements.
- Dysarthria, or difficulty in articulating words, caused by the impairment of muscle control.
- Cognitive impairment, ranging from mild to severe, affecting memory, planning, and decision-making abilities.
- Mood disorders, including depression and anxiety.
Early diagnosis and intervention are crucial for managing the symptoms of SCA12 and improving the quality of life for those affected. This is where genetic testing plays a pivotal role.
Genetic Testing for SCA12
DNA Labs UAE offers a comprehensive genetic test for SCA12, specifically targeting the PPP2R2B gene to identify the mutation responsible for the condition. The test involves a simple blood draw or saliva sample from which DNA is extracted and analyzed for the presence of the CAG trinucleotide repeat expansion in the PPP2R2B gene.
The cost of the PPP2R2B Gene Spinocerebellar Ataxia Type 12 Autosomal Dominant Genetic Test is 4400 AED. This test is essential for individuals with a family history of SCA12 or those experiencing symptoms associated with the condition. It not only aids in the diagnosis but also helps in family planning and the assessment of risk for future generations.
Benefits of Genetic Testing
Undergoing genetic testing for SCA12 offers numerous benefits, including:
- Early diagnosis and the opportunity for early intervention to manage symptoms.
- Information that can aid in family planning and understanding the risk of passing the condition to future generations.
- Peace of mind for individuals and families affected by or at risk of SCA12.
In conclusion, the PPP2R2B Gene Spinocerebellar Ataxia Type 12 Autosomal Dominant Genetic Test provided by DNA Labs UAE is a crucial tool in the fight against SCA12. By offering early diagnosis and vital information for managing the condition, this test represents hope for many individuals and families affected by SCA12. For more information or to schedule a test, please visit DNA Labs UAE.
