Pompe Disease Quantitative Blood Test
Introduction to Pompe Disease
Pompe disease, also known as Glycogen Storage Disease type II, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase. This enzyme is crucial for breaking down glycogen, a form of stored sugar, in the body’s cells. When this enzyme is deficient, glycogen accumulates in the muscles, leading to progressive muscle weakness and respiratory issues. Early diagnosis through the Pompe Disease Quantitative Blood Test is vital for managing symptoms and improving the quality of life for affected individuals.
What the Test Measures
The Pompe Disease Quantitative Blood Test measures the activity of the enzyme acid alpha-glucosidase in the blood. A low level of this enzyme indicates a potential diagnosis of Pompe disease. This test is particularly important for newborns and individuals exhibiting symptoms of muscle weakness or respiratory difficulties.
Who Should Consider This Test?
This test is recommended for:
- Newborns with unexplained muscle weakness.
- Individuals with a family history of Pompe disease.
- Patients showing symptoms such as difficulty in muscle coordination, respiratory problems, or progressive muscle weakness.
Benefits of Taking the Test
Taking the Pompe Disease Quantitative Blood Test offers several benefits:
- Early detection of Pompe disease, enabling timely treatment.
- Better management of symptoms and improved quality of life.
- Informed family planning for those with a family history of the disease.
Understanding Your Results
Results from the Pompe Disease Quantitative Blood Test will indicate the level of acid alpha-glucosidase activity in your blood. A significantly low enzyme activity suggests a diagnosis of Pompe disease. It is essential to discuss your results with your healthcare provider to understand the implications and next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Pompe Disease Quantitative Blood Test | 80,000 NGN | 136,000 NGN |
Book Your Test Today!
Don’t wait for symptoms to worsen. Early diagnosis is key! Book your Pompe Disease Quantitative Blood Test today by calling or sending a WhatsApp message to +2348077798758. Our team at DNA Labs Nigeria is ready to assist you with your diagnostic needs.
Test Details
- Turnaround Time: Sample daily by 4 PM; Report in 4 days.
- Sample Type: 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) / Green Top (Sodium Heparin) tubes. Ship refrigerated within 48 hours. Clinical history is mandatory.
- Specialty: Pediatrician
- Department: Genetic
- Method: Enzyme assay
- Disease Type: Inborn errors of metabolism
