Short Description

NGS genetic DNA test detecets for variant and mutation detection in LDHA gene for Glycogen storage disease type 11

PreTest Information

Clinical History of Patient who is going for LDHA Gene Glycogen storage disease type 11 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 11

Detail Description

LDHA Gene Glycogen Storage Disease Type 11 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

LDHA gene is responsible for encoding an enzyme called lactate dehydrogenase A, which plays a crucial role in the production of energy in the body. Glycogen storage disease type 11 (GSD11) is a rare genetic disorder that is caused by a deficiency in the LDHA enzyme. This disorder affects the body's ability to store and utilize glycogen, which is the primary source of energy for muscles and other tissues.

Symptoms of GSD11

The symptoms of GSD11 can vary from person to person and may include:

• Muscle weakness and fatigue
• Difficulty with physical activities
• Exercise intolerance
• Low muscle tone
• Delayed motor development
• Cardiac abnormalities

Diagnosis of GSD11

The diagnosis of GSD11 is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. The biochemical testing involves measuring the levels of lactate and pyruvate in the blood, while the genetic testing involves analyzing the LDHA gene for mutations that may cause GSD11.

NGS Genetic DNA Test for GSD11

Next-generation sequencing (NGS) genetic DNA test is a powerful diagnostic tool that can be used to identify genetic mutations associated with GSD11. This test involves analyzing the entire LDHA gene for mutations that may cause GSD11. NGS genetic DNA test for GSD11 is a non-invasive test that requires only a blood sample.

Cost of NGS Genetic DNA Test for GSD11

The cost of NGS genetic DNA test for GSD11 in India is around INR 20,000. This cost may vary depending on the testing facility and the location.

Conclusion

GSD11 is a rare genetic disorder that can cause muscle weakness, exercise intolerance, and cardiac abnormalities. NGS genetic DNA test is a powerful diagnostic tool that can be used to identify genetic mutations associated with GSD11. The cost of NGS genetic DNA test for GSD11 in India is around INR 20,000. If you are experiencing any of the symptoms associated with GSD11, it is important to consult a healthcare professional for proper diagnosis and treatment.