Pompe Disease Quantitative Blood Test
Introduction
The Pompe Disease Quantitative Blood Test is a vital diagnostic tool used to detect Pompe disease, a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase. This deficiency leads to the accumulation of glycogen in the body’s cells, particularly in muscle tissues, resulting in progressive muscle weakness and respiratory issues. Early diagnosis is critical for effective management and treatment, making this test an essential step for individuals showing symptoms or having risk factors.
What the Test Measures
This test measures the levels of the acid alpha-glucosidase enzyme in the blood. Low levels of this enzyme indicate a higher likelihood of Pompe disease, allowing for timely intervention and management strategies.
Who Should Consider This Test
Individuals who should consider the Pompe Disease Quantitative Blood Test include:
- Those with a family history of Pompe disease.
- Patients exhibiting symptoms such as muscle weakness, respiratory difficulties, or cardiomyopathy.
- Newborns who may be at risk for metabolic disorders.
Benefits of Taking the Test
Taking the Pompe Disease Quantitative Blood Test offers several benefits:
- Early detection of Pompe disease, which can significantly improve treatment outcomes.
- Guidance for healthcare providers in tailoring management plans for affected individuals.
- Peace of mind for families with a history of genetic disorders.
Understanding Your Results
Results from the Pompe Disease Quantitative Blood Test will indicate the levels of the acid alpha-glucosidase enzyme in your blood. A low enzyme level suggests a diagnosis of Pompe disease, while normal levels may rule out the condition. It is essential to discuss your results with a healthcare professional for accurate interpretation and guidance on next steps.
Test Name and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Pompe Disease Quantitative Blood Test | 8000 KSh | 13600 KSh |
Sample Collection and Turnaround Time
Sample type required: 10 mL (7.5 mL min.) whole blood collected from 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes. Samples should be shipped refrigerated within 48 hours. Clinical history is mandatory for accurate testing.
Turnaround time for results is four days, with daily sample collection by 4 PM.
Branches and Booking Information
We have branches across all major cities in Kenya, providing convenient access to our services. For your convenience, we also offer home sample collection services.
Book your Pompe Disease Quantitative Blood Test today! Call or WhatsApp us at +254711564616 to schedule your appointment.
