Short Description

NGS genetic DNA test detecets for variant and mutation detection in GSS gene for Glutathione synthetase deficiency

PreTest Information

Clinical History of Patient who is going for GSS Gene Glutathione synthetase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glutathione synthetase deficiency

Detail Description

GSS Gene Glutathione Synthetase Deficiency NGS Genetic DNA Test Cost INR: 20,000 Symptoms Diagnosis

Glutathione synthetase deficiency is a rare genetic disorder that affects the body's ability to produce the antioxidant glutathione. This deficiency can lead to a variety of symptoms, including neurological problems, liver dysfunction, and hemolytic anemia. If you suspect that you or a loved one may have glutathione synthetase deficiency, it is important to get an accurate diagnosis to ensure proper treatment. One way to do this is through NGS genetic DNA testing.

Symptoms of Glutathione Synthetase Deficiency

The symptoms of glutathione synthetase deficiency can vary depending on the severity of the condition and the age of onset. Some of the most common symptoms include:

• Neurological problems, such as seizures, developmental delay, and intellectual disability
• Liver dysfunction, which can lead to jaundice and an enlarged liver
• Hemolytic anemia, which is a condition in which red blood cells are destroyed faster than they can be produced
• Low muscle tone
• Delayed growth and development
• Respiratory problems

If you or your child is experiencing any of these symptoms, it is important to speak with a doctor as soon as possible to determine the underlying cause.

Diagnosing Glutathione Synthetase Deficiency

Diagnosing glutathione synthetase deficiency can be challenging, as the symptoms can be similar to those of other conditions. However, there are several tests that can help to confirm a diagnosis, including:

• Blood tests to measure levels of glutathione and other markers of liver function
• Genetic testing to look for mutations in the GSS gene
• Imaging tests, such as an ultrasound or MRI, to look for liver abnormalities

If you suspect that you or a loved one may have glutathione synthetase deficiency, it is important to speak with a genetic counselor or other medical professional who can help guide you through the diagnostic process.

NGS Genetic DNA Testing for Glutathione Synthetase Deficiency

NGS genetic DNA testing is a powerful tool that can help to diagnose genetic disorders, including glutathione synthetase deficiency. This type of testing uses next-generation sequencing technology to analyze a person's DNA and look for mutations in specific genes, such as the GSS gene.

The cost of NGS genetic DNA testing for glutathione synthetase deficiency can vary depending on the testing facility and the specific tests that are ordered. However, on average, the cost of this type of testing in India is around INR 20,000.

Conclusion

If you or a loved one is experiencing symptoms of glutathione synthetase deficiency, it is important to speak with a doctor to determine the underlying cause. NGS genetic DNA testing can be a powerful tool in diagnosing this rare genetic disorder, and can help to guide treatment decisions and improve outcomes. If you are considering genetic testing, be sure to speak with a genetic counselor or other medical professional who can help you understand the benefits and limitations of this type of testing.

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 GSS Gene Glutathione synthetase deficiency NGS Genetic DNA Test