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Accurate Test Results for PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic DNA Test
PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic DNA Test Cost 20000 Rs
PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic DNA Test Details
PREPL Gene Hypotonia-Cystinuria Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis
DNA Labs India offers a comprehensive genetic test for the PREPL gene, which is associated with hypotonia-cystinuria syndrome (HCS). This test can help diagnose HCS and provide insights into the underlying genetic factors contributing to the disorder.
What is Hypotonia-Cystinuria Syndrome?
Hypotonia-cystinuria syndrome (HCS) is a rare genetic disorder that affects the muscles, kidneys, and digestive system. It is caused by mutations in the PREPL gene, which provides instructions for making an enzyme that is involved in the breakdown of certain amino acids.
People with HCS experience weak muscle tone (hypotonia) and difficulty with movement and coordination. They may also have recurrent kidney stones due to the buildup of cystine, an amino acid that is not properly processed by the body. Other symptoms can include feeding difficulties, vomiting, and developmental delays.
Diagnosing HCS
Diagnosing HCS can be challenging because the symptoms are variable and can overlap with other conditions. However, genetic testing can be a valuable tool in confirming a diagnosis and identifying the specific genetic mutations responsible for the disorder.
The genetic test offered by DNA Labs India analyzes the PREPL gene using next-generation sequencing (NGS) technology. This method allows for the simultaneous analysis of multiple genes, which can provide a more comprehensive view of the genetic factors contributing to HCS.
Cost of the PREPL Gene Hypotonia-Cystinuria Syndrome NGS Genetic DNA Test
The cost of the PREPL gene hypotonia-cystinuria syndrome NGS genetic DNA test at DNA Labs India is INR 20000. This includes the cost of sample collection, genetic analysis, and a detailed report of the results.
While this may seem like a significant expense, genetic testing can provide valuable information about the underlying causes of a disorder and can help guide treatment decisions. In addition, some insurance plans may cover the cost of genetic testing for certain conditions, so it is worth checking with your provider to see if this test is covered.
Conclusion
Hypotonia-cystinuria syndrome is a rare genetic disorder that can be difficult to diagnose. However, genetic testing can provide valuable insights into the underlying genetic mutations contributing to the disorder. The PREPL gene hypotonia-cystinuria syndrome NGS genetic DNA test offered by DNA Labs India is a comprehensive and affordable option for individuals seeking a diagnosis for this condition.
If you or a loved one are experiencing symptoms of HCS, it is important to seek medical attention and consider genetic testing as a tool for diagnosis and treatment.
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 PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic DNA Test
