Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLP1 gene for Pelizaeus-Merzbacher disease

PreTest Information

Clinical History of Patient who is going for PLP1 Gene Pelizaeus-Merzbacher disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLP1 Gene Pelizaeus-Merzbacher disease

Detail Description

PLP1 Gene Pelizaeus-Merzbacher Disease NGS Genetic DNA Test

Pelizaeus-Merzbacher Disease (PMD) is a rare, genetic disorder that affects the central nervous system. It is caused by mutations in the PLP1 gene, which provides instructions for making a protein called myelin proteolipid protein. This protein plays a critical role in the formation and maintenance of myelin, a substance that surrounds and protects nerve fibers in the brain and spinal cord.

When the PLP1 gene is mutated, myelin cannot form properly, leading to a range of symptoms that can include:

• Progressive muscle weakness
• Coordination and movement difficulties
• Vision and hearing problems
• Cognitive impairment

Diagnosis of PMD typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Next-generation sequencing (NGS) technology is an advanced form of genetic testing that can analyze multiple genes at once, allowing for more comprehensive and accurate diagnosis.

NGS Genetic DNA Test for PLP1 Gene Pelizaeus-Merzbacher Disease

DNA Labs India offers an NGS genetic DNA test for PLP1 gene Pelizaeus-Merzbacher disease. This test analyzes the entire coding region and splice sites of the PLP1 gene, providing a comprehensive evaluation of potential mutations that can cause PMD.

The cost of this test is INR 20,000, and results are typically available within 4-6 weeks. This test can be performed on a blood or saliva sample, and is suitable for individuals of any age who are suspected of having PMD or have a family history of the condition.

Benefits of NGS Genetic DNA Testing for PMD

NGS genetic DNA testing offers several benefits for the diagnosis of PMD:

• Comprehensive evaluation of the PLP1 gene, providing a more accurate diagnosis
• Ability to analyze multiple genes at once, reducing the need for additional testing
• Early diagnosis can lead to better treatment outcomes and improved quality of life
• Helps identify carriers of PMD mutations, allowing for informed family planning decisions

Conclusion

If you or a loved one are experiencing symptoms of Pelizaeus-Merzbacher disease or have a family history of the condition, DNA Labs India's NGS genetic DNA test for PLP1 gene PMD can provide a comprehensive evaluation of potential mutations. Early diagnosis can lead to better treatment outcomes and improved quality of life, and can help inform family planning decisions. Contact DNA Labs India today to learn more about this advanced genetic testing option.

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 PLP1 Gene Pelizaeus-Merzbacher disease NGS Genetic DNA Test