Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRKAG2 gene for Glycogen storage disease of heart (lethal)

PreTest Information

Clinical History of Patient who is going for PRKAG2 Gene Glycogen storage disease of heart (lethal) NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease of heart (lethal)

Detail Description

PRKAG2 Gene Glycogen Storage Disease of Heart (Lethal) NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Glycogen Storage Diseases (GSDs) are a group of inherited metabolic disorders that affect the way the body stores and uses glycogen, a form of sugar that is stored in the liver and muscles. One of the types of GSDs is the PRKAG2 Gene Glycogen Storage Disease of Heart, which is a lethal condition that affects the heart.

Symptoms of PRKAG2 Gene Glycogen Storage Disease of Heart

The symptoms of PRKAG2 Gene Glycogen Storage Disease of Heart usually begin in childhood or adolescence and include:

• Shortness of breath during exercise
• Irregular heartbeat
• Enlarged heart
• Fainting
• Sudden death

Diagnosis of PRKAG2 Gene Glycogen Storage Disease of Heart

PRKAG2 Gene Glycogen Storage Disease of Heart is diagnosed through a combination of clinical evaluation, imaging tests, and genetic testing. A doctor may suspect the condition based on the symptoms and family history. Imaging tests such as echocardiogram and MRI can help determine the extent of heart damage.

Genetic testing is the most accurate way to diagnose PRKAG2 Gene Glycogen Storage Disease of Heart. It involves analyzing a sample of the patient's DNA to look for mutations in the PRKAG2 gene. The test can be performed using Next-Generation Sequencing (NGS) technology, which allows for faster and more accurate analysis of multiple genes at once.

NGS Genetic DNA Test Cost for PRKAG2 Gene Glycogen Storage Disease of Heart

The cost of NGS Genetic DNA Test for PRKAG2 Gene Glycogen Storage Disease of Heart in India is around INR 20,000. The test can be performed at DNA Labs India, a leading provider of genetic testing services in the country.

Conclusion

PRKAG2 Gene Glycogen Storage Disease of Heart is a rare but lethal condition that affects the heart. Early diagnosis through genetic testing can help identify the condition and prevent serious complications. DNA Labs India offers NGS Genetic DNA Test for PRKAG2 Gene Glycogen Storage Disease of Heart at an affordable cost, making it accessible to patients across the country.

If you suspect that you or someone in your family may have PRKAG2 Gene Glycogen Storage Disease of Heart, it is important to consult a doctor and consider genetic testing. Early diagnosis and treatment can make a big difference in managing the condition and improving quality of life.

For more information on NGS Genetic DNA Test for PRKAG2 Gene Glycogen Storage Disease of Heart, please visit 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 PRKAG2 Gene Glycogen storage disease of heart (lethal) NGS Genetic DNA Test