Short Description

Glycogen Storage Disorder Gene Panel is performed using NGS methodology. Sample that have to be given is Amniotic fluid/ Chorionic villi/ Peripheral blood in Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer for this test. You can expect results in 4-6 weeks

PreTest Information

Glycogen Storage Disorder Gene Panel can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Glycogen Storage Disorder Gene Panel Cost INR 36000: Symptoms, Diagnosis, and Treatment

Glycogen Storage Disorder (GSD) is a rare genetic disorder that affects the body's ability to store and use glycogen, the body's main source of energy. There are several types of GSD, and each type is caused by a different genetic mutation. The symptoms of GSD can vary widely, but they often include low blood sugar, muscle weakness, and enlarged liver and spleen. Diagnosis of GSD typically involves genetic testing, which can be costly. DNA Labs India offers a Glycogen Storage Disorder Gene Panel for INR 36000, which can help diagnose GSD and provide valuable information for treatment.

Symptoms of Glycogen Storage Disorder

The symptoms of GSD can vary depending on the type of GSD a person has. Some common symptoms include:

• Low blood sugar
• Muscle weakness and wasting
• Enlarged liver and spleen
• Delayed growth and development
• Difficulty gaining weight
• Short stature
• Abnormal liver function
• Recurrent infections
• Seizures

If you or your child is experiencing any of these symptoms, it's important to see a doctor for evaluation. GSD can be a serious condition, and early diagnosis and treatment can help prevent complications.

Diagnosis of Glycogen Storage Disorder

Diagnosis of GSD typically involves genetic testing to identify the specific genetic mutation that is causing the disorder. DNA Labs India offers a Glycogen Storage Disorder Gene Panel for INR 36000, which can help diagnose GSD and provide valuable information for treatment. The gene panel includes testing for the following genes:

• G6PC
• GAA
• SLC37A4
• PGM1
• PHKA1
• PHKB
• PHKG2
• LAMP2
• PRKAG2
• FBP1
• ALDOA
• ALDOB

Once the genetic mutation has been identified, doctors can develop a treatment plan tailored to the specific type of GSD a person has.

Treatment of Glycogen Storage Disorder

Treatment of GSD typically involves managing the symptoms of the disorder. This may include:

• Dietary changes: People with GSD may need to follow a specific diet to help manage their symptoms. This may include avoiding foods high in carbohydrates and sugars.
• Medications: Medications may be used to help manage symptoms such as low blood sugar or muscle weakness.
• Enzyme replacement therapy: In some cases, enzyme replacement therapy may be used to replace the missing or deficient enzyme that is causing the disorder.
• Liver transplant: In severe cases of GSD, a liver transplant may be necessary to replace the liver's missing or deficient enzyme.

Conclusion

Glycogen Storage Disorder is a rare genetic disorder that can cause a range of symptoms, including low blood sugar, muscle weakness, and enlarged liver and spleen. Diagnosis of GSD typically involves genetic testing, which can be costly. DNA Labs India offers a Glycogen Storage Disorder Gene Panel for INR 36000, which can help diagnose GSD and provide valuable information for treatment. If you or your child is experiencing symptoms of GSD, it's important to see a doctor for evaluation.