Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC20A2 gene for Basal ganglia calcification type 1, ideopathic

PreTest Information

Clinical History of Patient who is going for SLC20A2 Gene Basal ganglia calcification type 1, ideopathic NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC20A2 Gene Basal ganglia calcification type 1, ideopathic NGS Genetic DNA Test gene SLC20A2

Detail Description

Understanding SLC20A2 Gene Basal Ganglia Calcification Type 1: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost INR 20,000

Basal ganglia calcification (BGC) is a rare neurological disorder that affects the brain's basal ganglia, a group of nuclei responsible for voluntary movements and cognitive functions. The disorder is characterized by the accumulation of calcium deposits in the brain, leading to various symptoms such as cognitive impairment, movement disorders, and psychiatric abnormalities.

SLC20A2 gene is associated with basal ganglia calcification type 1, which is a subtype of BGC. The gene provides instructions for producing a protein called phosphate transporter 2 (PiT2), which is involved in the regulation of phosphate levels in the body.

Symptoms of SLC20A2 Gene Basal Ganglia Calcification Type 1

The symptoms of SLC20A2 gene basal ganglia calcification type 1 can vary widely depending on the severity and location of the calcium deposits. Some common symptoms include:

• Cognitive impairment
• Psychiatric abnormalities
• Movement disorders
• Headaches
• Seizures
• Stiffness and rigidity
• Tremors
• Loss of coordination

The onset and progression of symptoms can also vary from person to person, with some experiencing symptoms in childhood or adolescence, while others may develop symptoms later in life.

Diagnosis of SLC20A2 Gene Basal Ganglia Calcification Type 1

Diagnosing SLC20A2 gene basal ganglia calcification type 1 can be challenging as the symptoms can overlap with other neurological disorders. However, a combination of clinical evaluation, imaging tests, and genetic testing can help confirm the diagnosis.

Imaging tests such as computed tomography (CT) scan or magnetic resonance imaging (MRI) can reveal the presence of calcium deposits in the basal ganglia. Genetic testing can identify mutations in the SLC20A2 gene, which can confirm the diagnosis.

NGS Genetic DNA Test Cost INR 20,000

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool that can identify mutations in the SLC20A2 gene associated with basal ganglia calcification type 1. This test uses advanced sequencing technology to analyze multiple genes simultaneously, providing a comprehensive and accurate diagnosis.

The cost of NGS genetic DNA testing for SLC20A2 gene basal ganglia calcification type 1 in India is around INR 20,000. The test requires a blood sample, which is sent to a specialized laboratory for analysis. The results of the test can take several weeks to be available.

Conclusion

SLC20A2 gene basal ganglia calcification type 1 is a rare neurological disorder that can cause cognitive impairment, movement disorders, and psychiatric abnormalities. Genetic testing using NGS technology can help confirm the diagnosis and provide valuable information for treatment and management of the disorder. The cost of NGS genetic DNA testing for SLC20A2 gene basal ganglia calcification type 1 in India is around INR 20,000, making it a valuable investment in the health and well-being of individuals affected by this disorder.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SLC20A2 Gene Basal ganglia calcification type 1, ideopathic NGS Genetic DNA Test