Short Description

NGS genetic DNA test detecets for variant and mutation detection in PPM1K gene for Maple syrup urine disease, mild variant

PreTest Information

Clinical History of Patient who is going for PPM1K Gene Maple syrup urine disease, mild variant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Maple syrup urine disease, mild variant

Detail Description

PPM1K Gene Maple Syrup Urine Disease: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that affects the breakdown of certain amino acids. The disease is named after the sweet-smelling urine of affected infants, which smells like maple syrup. The most common form of MSUD is caused by mutations in the PPM1K gene.

PPM1K gene mutations can cause a mild variant of MSUD, which may not be detected until later in life. Symptoms of the mild variant of MSUD can include poor feeding, vomiting, lethargy, and developmental delays. If left untreated, the disease can lead to neurological damage, coma, and even death.

Diagnosis of PPM1K Gene Maple Syrup Urine Disease

The diagnosis of PPM1K gene Maple Syrup Urine Disease is usually made by measuring the levels of amino acids in the blood and urine. Genetic testing can also confirm the diagnosis of the disease. Next-generation sequencing (NGS) genetic DNA testing is a powerful tool that can identify mutations in the PPM1K gene.

NGS genetic DNA testing is a highly accurate and reliable way to diagnose PPM1K gene Maple Syrup Urine Disease. The test involves sequencing the entire PPM1K gene and comparing it to a reference sequence. The test can detect mutations that are not detectable by other methods, such as Sanger sequencing.

NGS Genetic DNA Test Cost for PPM1K Gene Maple Syrup Urine Disease

The cost of NGS genetic DNA testing for PPM1K gene Maple Syrup Urine Disease can vary depending on the laboratory and the location. In India, the cost of the test is typically around INR 20,000.

NGS genetic DNA testing is a valuable investment for individuals and families who are at risk of PPM1K gene Maple Syrup Urine Disease. Early detection and treatment of the disease can prevent serious complications and improve the quality of life for affected individuals.

Conclusion

PPM1K gene Maple Syrup Urine Disease is a rare genetic disorder that can cause serious health problems if left untreated. Symptoms of the disease can include poor feeding, vomiting, lethargy, and developmental delays. Diagnosis of the disease can be made by measuring the levels of amino acids in the blood and urine, and genetic testing can confirm the diagnosis. NGS genetic DNA testing is a highly accurate and reliable way to diagnose PPM1K gene Maple Syrup Urine Disease, and the cost of the test in India is typically around INR 20,000.

Individuals and families who are at risk of PPM1K gene Maple Syrup Urine Disease should consider NGS genetic DNA testing as a valuable investment in their health and well-being. Early detection and treatment of the disease can prevent serious complications and improve the quality of life for affected individuals.

At DNA Labs India, we offer NGS genetic DNA testing for PPM1K gene Maple Syrup Urine Disease at an affordable cost. Our team of highly experienced genetic counselors and scientists can guide you through the testing process and provide you with accurate and reliable results. Contact us today to learn more.

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 PPM1K Gene Maple syrup urine disease, mild variant NGS Genetic DNA Test