Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALDOA gene for Glycogen storage disease type 12

PreTest Information

Clinical History of Patient who is going for ALDOA Gene Glycogen storage disease type 12 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 12

Detail Description

ALDOA Gene and Glycogen Storage Disease Type 12: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by abnormal storage or breakdown of glycogen in the body's tissues. GSD type 12 is caused by mutations in the ALDOA gene, which encodes for the enzyme aldolase A that is involved in the breakdown of glucose. This results in a deficiency of glycogen breakdown in muscle cells, leading to muscle weakness, cramping, and fatigue.

Symptoms of GSD Type 12

The symptoms of GSD type 12 can vary in severity and onset. Some individuals may experience symptoms from birth, while others may not show any symptoms until adulthood. The most common symptoms include:

• Muscle weakness and cramping
• Fatigue
• Exercise intolerance
• Myoglobinuria (the presence of myoglobin in urine)
• Elevated liver enzymes

Diagnosis of GSD Type 12

The diagnosis of GSD type 12 is usually made through a combination of clinical symptoms, biochemical tests, and genetic testing. A muscle biopsy may also be performed to confirm the diagnosis and assess the severity of the disease. Genetic testing is particularly important for family members of affected individuals to identify carriers and provide genetic counseling.

NGS Genetic DNA Test Cost

Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations associated with GSD type 12 and other genetic disorders. DNA Labs India offers NGS genetic DNA testing for GSD type 12 at a cost of INR 20,000. This test can identify mutations in the ALDOA gene, allowing for early diagnosis and treatment of the disease.

Conclusion

GSD type 12 is a rare genetic disorder that can cause muscle weakness, cramping, and fatigue. Early diagnosis through genetic testing can help individuals and families affected by the disease receive appropriate treatment and genetic counseling. DNA Labs India offers NGS genetic DNA testing for GSD type 12 at an affordable cost, making it accessible to those in need.

For more information on NGS genetic DNA testing and other genetic testing services, visit the DNA Labs India website.