Why to get tested at DNA Labs India for ENO3 Gene Glycogen storage disease type 13 NGS Genetic DNA Test ?
Book Now
-
3500 Sample collection centers, Free Home Sample
collection for ENO3 Gene Glycogen storage disease type 13 NGS Genetic DNA Test in your city
-
Ranked India No1 DNA Test Lab for
ENO3 Gene Glycogen storage disease type 13 NGS Genetic DNA Test
-
Most Trusted Lab by doctors for ENO3 Gene Glycogen storage disease type 13 NGS Genetic DNA Test. Call 07941057551 to talk with Doctor to
get second opinion for free of cost
-
100% All Conversation are private and confidential Call 07941057551 to talk with doctor 100%
Accurate Test Results for ENO3 Gene Glycogen storage disease type 13 NGS Genetic DNA Test
ENO3 Gene Glycogen storage disease type 13 NGS Genetic DNA Test Cost 20000 Rs
ENO3 Gene Glycogen storage disease type 13 NGS Genetic DNA Test Details
DNA Labs India: Understanding ENO3 Gene and Glycogen Storage Disease Type 13
Glycogen storage disease type 13, also known as GSD13, is a rare genetic disorder that affects the way the body stores and uses glycogen. It is caused by mutations in the ENO3 gene, which provides instructions for making an enzyme called enolase 3.
The ENO3 gene is located on chromosome 17 and is responsible for producing enolase 3, an enzyme that plays a critical role in the breakdown of glycogen. Glycogen is a complex sugar that the body uses as a source of energy. When the body needs energy, glycogen is broken down into glucose, which is then used by cells for energy.
Symptoms of Glycogen Storage Disease Type 13
The symptoms of GSD13 can vary from person to person, but typically include:
- Low blood sugar levels (hypoglycemia)
- Difficulty gaining weight
- Delayed growth and development
- Enlarged liver (hepatomegaly)
- Enlarged heart (cardiomegaly)
- Abnormal muscle tone (hypotonia)
- Weakness
- Difficulty breathing
Diagnosing Glycogen Storage Disease Type 13
GSD13 is diagnosed through genetic testing, which looks for mutations in the ENO3 gene. This can be done through a variety of methods, including:
- NGS (Next-Generation Sequencing) Genetic DNA Test
- Whole-exome sequencing
- Sanger sequencing
NGS Genetic DNA Test is the most common method used for diagnosing GSD13. It is a highly sensitive and accurate test that can detect even small mutations in the ENO3 gene.
Cost of NGS Genetic DNA Test for Glycogen Storage Disease Type 13
The cost of NGS Genetic DNA Test for Glycogen Storage Disease Type 13 in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and the specific testing method used.
The Importance of Early Diagnosis
Early diagnosis of GSD13 is important in order to prevent complications and manage the symptoms of the disease. Treatment may include a special diet, medications to manage blood sugar levels, and other supportive therapies.
If you or someone you know is experiencing symptoms of GSD13, it is important to speak with a healthcare provider and undergo genetic testing as soon as possible.
Conclusion
Glycogen storage disease type 13 is a rare genetic disorder that affects the way the body stores and uses glycogen. It is caused by mutations in the ENO3 gene and can lead to a variety of symptoms, including low blood sugar levels, difficulty gaining weight, and enlarged liver and heart. NGS Genetic DNA Test is the most common method used for diagnosing GSD13 and can cost approximately INR 20,000 in India. Early diagnosis is important in order to prevent complications and manage the symptoms of the disease.
DNA Labs India offers a wide range of genetic testing services, including NGS Genetic DNA Test for Glycogen Storage Disease Type 13. Contact us today to learn more about our services and how we can help you.
