Galactosemia Epimerase Quantitative Blood Test
Introduction to the Test
The Galactosemia Epimerase Quantitative Blood Test is a critical diagnostic tool used to assess the enzymatic activity of epimerase in the metabolism of galactose, a sugar found in various foods. This test is vital for identifying individuals with galactosemia, a genetic disorder that can lead to severe health complications if not managed properly. Early detection through this test can significantly improve health outcomes for affected individuals.
What the Test Measures
This test quantifies the levels of epimerase enzyme activity in the blood, which is essential for the conversion of galactose to glucose. A deficiency in this enzyme can indicate a risk for galactosemia, allowing for timely intervention and management.
Who Should Consider This Test?
Individuals who may benefit from the Galactosemia Epimerase Quantitative Blood Test include:
- Infants showing symptoms of galactosemia, such as jaundice, vomiting, or poor feeding.
- Individuals with a family history of galactosemia or other inborn errors of metabolism.
- Patients experiencing unexplained metabolic issues.
Benefits of Taking the Test
- Early diagnosis of galactosemia can prevent serious complications, including liver damage and developmental delays.
- Guides dietary restrictions to manage galactose levels effectively.
- Provides peace of mind for families with a genetic predisposition to metabolic disorders.
Understanding Your Results
Results from the Galactosemia Epimerase Quantitative Blood Test will indicate the level of epimerase activity. A significantly low level may suggest a diagnosis of galactosemia, prompting further clinical evaluation and management strategies. Always consult with a healthcare professional to interpret your results accurately.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Galactosemia Epimerase Quantitative Blood Test | 57330 NGN | 63700 NGN |
How to Book the Test
To book the Galactosemia Epimerase Quantitative Blood Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with any questions and to schedule your appointment.
Test Details
- Turnaround Time: Sample Daily by 4 pm; Report in 5 days
- Sample Type: 4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube. Ship refrigerated. DO NOT FREEZE.
- Pre-Test Instructions: Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany the sample.
- Specialty: Pediatrician
- Department: Genetic
- Method: Enzyme assay
- Disease Type: Inborn errors of metabolism
