Short Description

NGS genetic DNA test detecets for variant and mutation detection in PHKA2 gene for Glycogen storage disease type 9A

PreTest Information

Clinical History of Patient who is going for PHKA2 Gene Glycogen storage disease type 9A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 9A

Detail Description

PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Glycogen storage disease type 9A is a rare genetic disorder that affects the body's ability to store and use glycogen, a type of sugar that is stored in the liver and muscles. The PHKA2 gene is responsible for producing an enzyme called phosphorylase kinase, which helps break down glycogen into glucose for energy.

Symptoms of Glycogen Storage Disease Type 9A

The symptoms of glycogen storage disease type 9A can vary from person to person and may include:

• Low blood sugar (hypoglycemia)
• Enlarged liver (hepatomegaly)
• Enlarged heart (cardiomegaly)
• Muscle weakness and wasting
• Delayed growth and development

These symptoms may appear in infancy, childhood, or adulthood, depending on the severity of the disease.

Diagnosis of Glycogen Storage Disease Type 9A

Glycogen storage disease type 9A is diagnosed through a combination of physical examination, medical history, and genetic testing.

Physical examination may reveal an enlarged liver or heart, muscle weakness, and poor growth and development. Medical history may also provide clues to the diagnosis, such as a family history of the disease.

Genetic testing is the most reliable way to diagnose glycogen storage disease type 9A. This involves analyzing a person's DNA to look for mutations in the PHKA2 gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once and provide a more comprehensive diagnosis.

PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test Cost

The cost of a PHKA2 gene glycogen storage disease type 9A NGS genetic DNA test can vary depending on the laboratory and location. In India, the cost is typically around INR 20,000.

Conclusion

Glycogen storage disease type 9A is a rare genetic disorder that can cause a range of symptoms, including low blood sugar, enlarged liver and heart, muscle weakness, and delayed growth and development. Diagnosis is typically done through a combination of physical examination, medical history, and genetic testing, including NGS genetic DNA testing. If you suspect you or a loved one may have this condition, it's important to speak with a healthcare provider and undergo testing to receive a proper diagnosis and treatment plan.

At DNA Labs India, we offer a range of genetic DNA tests, including PHKA2 gene glycogen storage disease type 9A NGS genetic DNA testing. Our tests are performed using state-of-the-art technology and are designed to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you.

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 PHKA2 Gene Glycogen storage disease type 9A NGS Genetic DNA Test