Galactosemia Screening Blood Test
Introduction
The Galactosemia Screening Blood Test is a crucial diagnostic tool used to detect galactosemia, a rare genetic disorder that affects the body’s ability to process the sugar galactose. Early detection of this condition is essential, as it can prevent severe complications such as liver damage, intellectual disability, and other serious health issues. This test is particularly important for newborns and infants, as timely intervention can significantly improve their quality of life.
What the Test Measures
This screening test measures the levels of galactose and galactose-1-phosphate in the blood. Elevated levels may indicate the presence of galactosemia, prompting further diagnostic testing and evaluation.
Who Should Consider This Test
The Galactosemia Screening Blood Test is recommended for:
- Newborns and infants, especially those with a family history of metabolic disorders.
- Individuals displaying symptoms such as jaundice, vomiting, lethargy, and developmental delays.
- Patients who have undergone blood transfusions; however, it is advised to avoid sample collection for 60 days post-transfusion.
Benefits of Taking the Test
- Early detection of galactosemia can lead to prompt dietary interventions, preventing serious health complications.
- Understanding your metabolic health can guide future health decisions and monitoring.
- Peace of mind for parents and caregivers regarding their child’s health.
Understanding Your Results
Results from the Galactosemia Screening Blood Test are typically available the next day. A healthcare provider will interpret the results, explaining whether the levels of galactose and galactose-1-phosphate are within normal ranges or indicate a potential issue. If elevated levels are found, further testing may be recommended to confirm a diagnosis.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Galactosemia Screening Blood Test | 1638 KSh | 1820 KSh |
Booking Your Test
We have branches across Kenya and offer a home sample collection service to make it convenient for you. To book the Galactosemia Screening Blood Test or for more information, please call or WhatsApp us at +254711564616.
Additional Information
Sample Type: 4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube AND 4 mL (2 mL min.) CONTROL blood from 1 Green Top (Sodium Heparin) tube. Ship refrigerated. DO NOT FREEZE. Clinical and drug history must accompany the sample.
Turnaround Time: Sample daily by 4 PM; report next day.
This test is performed by pediatric specialists in the Genetic department using the Beutler Fluorescence Spot Test method, focusing on inborn errors of metabolism.
