Galactosemia GALT Gene Mutation Detection Test
Introduction
The Galactosemia GALT Gene Mutation Detection Test is a vital diagnostic tool used to identify mutations in the GALT gene, which are responsible for galactosemia, a serious metabolic disorder. Early detection is crucial for managing the condition, as it can lead to severe complications if left untreated. This test is particularly important for newborns and individuals with a family history of the disorder.
What the Test Measures
This genetic test specifically measures mutations in the GALT gene, which encodes the enzyme galactose-1-phosphate uridyltransferase. Deficiency of this enzyme leads to the accumulation of galactose in the body, resulting in various health issues.
Who Should Consider This Test?
Individuals who should consider the Galactosemia GALT Gene Mutation Detection Test include:
- Newborns showing symptoms of galactosemia, such as jaundice, feeding difficulties, and lethargy.
- Individuals with a family history of galactosemia or related metabolic disorders.
- Patients experiencing unexplained symptoms that may indicate metabolic issues.
Benefits of Taking the Test
Taking the Galactosemia GALT Gene Mutation Detection Test offers several benefits:
- Early diagnosis allows for prompt dietary management, reducing the risk of severe complications.
- Identifying genetic mutations can provide valuable information for family planning.
- Understanding your genetic profile can help tailor personalized treatment plans.
Understanding Your Results
Results from the Galactosemia GALT Gene Mutation Detection Test will indicate whether specific mutations are present. A positive result suggests a higher risk for galactosemia, while a negative result may provide reassurance. It is essential to discuss your results with a healthcare professional to understand their implications fully.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Galactosemia GALT Gene Mutation Detection Test | 230,000 NGN | 360,000 NGN |
How to Book the Test
To book the Galactosemia GALT Gene Mutation Detection Test, please call or WhatsApp us at +2348110567037. Ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20) ready, as it is mandatory for processing your test.
Additional Information
Sample Type: 4 mL (2 mL min.) whole blood from 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Turnaround Time: Sample Daily by 11am; Report 15 days.
