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Accurate Test Results for SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic DNA Test
SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic DNA Test Cost 20000 Rs
SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic DNA Test Details
SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
Pelizaeus-Merzbacher disease is a rare genetic disorder that affects the central nervous system, causing problems with movement, coordination, and speech. It is caused by mutations in the SLC16A2 gene, which encodes a protein called MCT8. This protein is important for the proper development and function of myelin, the fatty substance that insulates nerve fibers and allows for efficient communication between nerve cells.
Symptoms of Pelizaeus-Merzbacher Disease
The symptoms of Pelizaeus-Merzbacher disease can vary widely, depending on the severity of the condition and the age of onset. In general, however, people with this disorder experience problems with movement, coordination, and speech. Other common symptoms may include:
- Muscle stiffness and spasticity
- Weakness or paralysis
- Seizures
- Intellectual disability
- Vision problems
- Hearing loss
Diagnosis of Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher disease is typically diagnosed based on a combination of clinical symptoms and genetic testing. A doctor will perform a physical exam and ask about symptoms and family history. They may also order imaging tests such as a brain MRI to look for signs of myelin damage.
The most definitive way to diagnose Pelizaeus-Merzbacher disease is through genetic testing. This involves analyzing the DNA of the affected person to look for mutations in the SLC16A2 gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing, allowing for the simultaneous analysis of multiple genes at once.
Cost of NGS Genetic DNA Test for Pelizaeus-Merzbacher Disease
The cost of an NGS genetic DNA test for Pelizaeus-Merzbacher disease can vary depending on the specific test and the laboratory performing the analysis. At DNA Labs India, the cost of an NGS test for SLC16A2 mutations is INR 20,000.
Conclusion
Pelizaeus-Merzbacher disease is a rare genetic disorder that can cause significant problems with movement, coordination, and speech. It is caused by mutations in the SLC16A2 gene, which can be diagnosed through genetic testing. NGS is a powerful tool for genetic testing, allowing for the simultaneous analysis of multiple genes at once. If you or a loved one is experiencing symptoms of Pelizaeus-Merzbacher disease, talk to your doctor about the possibility of genetic testing.
For more information about NGS genetic DNA tests for Pelizaeus-Merzbacher disease or other genetic disorders, contact DNA Labs India.
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 SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic DNA Test
