Pompe Disease, Quantitative, Blood

What is the Pompe-Disease-Quantitative-Blood Test? Pompe disease is a hereditary disorder caused by a deficiency of an enzyme called acid alpha-glucosidase (GAA), which is involved in the breakdown of complex sugars in the body. This condition is caused by mutations in the GAA gene involved in glycogen breakdown.

Babies with Pompe disease die without treatment. Many people with Pompe disease have respiratory issues, heart issues, and muscle weakness. Everyone needs oxygen and a wheelchair at some point.

Why Done? 

Symptoms vary depending on when the disease manifests.

• The legs and trunk gradually weaken.
• Heart enlargement 
• Walking difficulties
• Muscle pain all over
• Loss of exercise ability
• Infections of the lungs
• Shortness of breath 
• Morning headaches, tiredness
• Heart rate irregularities 
• Hearing loss

Procedure: 

You'll have blood extracted from an arm vein. 

How does one prepare for the test? 

Fasting is required.

Required Documents for Pompe-Disease-Quantitative-Blood Test:

• Doctor prescription. 
• A valid government ID.

After Care: 

No care is required.

Cost of Pompe-Disease-Quantitative-Blood Test in Delhi: 

The Pompe-Disease-Quantitative-Blood Test cost varies by region and facility. So constantly get tested at trustworthy diagnostic centers like Ganesh Diagnostic. It is staffed by trained and experienced professionals to assure patient and visitor safety.