Galactosemia Epimerase Quantitative Blood Test
The Galactosemia Epimerase Quantitative Blood Test is a critical diagnostic tool used to measure the levels of the enzyme epimerase in the blood, which plays a vital role in the metabolism of galactose. Galactosemia is an inborn error of metabolism that can lead to severe complications if not diagnosed and managed early. This test is essential for identifying individuals who may be at risk of developing health issues related to galactose metabolism.
What the Test Measures
This test specifically measures the activity of the enzyme galactose epimerase. A deficiency in this enzyme can lead to an accumulation of galactose in the body, which can cause various health problems, including liver damage, cataracts, and intellectual disabilities.
Who Should Consider This Test?
Individuals who should consider the Galactosemia Epimerase Quantitative Blood Test include:
- Newborns who exhibit symptoms of galactosemia, such as jaundice or feeding difficulties.
- Individuals with a family history of galactosemia or other metabolic disorders.
- Patients experiencing unexplained developmental delays or neurological issues.
Benefits of Taking the Test
Taking the Galactosemia Epimerase Quantitative Blood Test offers several benefits:
- Early diagnosis allows for timely intervention and management of galactosemia.
- Helps prevent serious complications associated with untreated galactosemia.
- Provides peace of mind for families with a history of metabolic disorders.
Understanding Your Results
Results from the Galactosemia Epimerase Quantitative Blood Test will indicate the level of enzyme activity. Normal results suggest no deficiency, while low levels may indicate a potential risk for galactosemia. It is essential to discuss your results with a healthcare provider for accurate interpretation and guidance.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Galactosemia Epimerase Quantitative Blood Test | 5733 KSh | 6370 KSh |
Sample Collection and Instructions
For this test, a sample of 4 mL (minimum 2 mL) of whole blood is required from a green top (sodium heparin) tube. The sample must be shipped refrigerated and should not be frozen. Please avoid sample collection for 60 days post-transfusion, and ensure that clinical and drug history accompanies the sample.
Branches and Booking
We have branches across all major cities in Kenya, offering convenient access to our testing services. To book the Galactosemia Epimerase Quantitative Blood Test, please call or WhatsApp us at +254711564616 or visit our website to schedule your appointment.
