Galactosemia GALT Gene Mutation Detection Test
Introduction
The Galactosemia GALT Gene Mutation Detection Test is a crucial diagnostic tool used to identify mutations in the GALT gene, which are responsible for the metabolic disorder known as galactosemia. This condition affects the body’s ability to metabolize galactose, a sugar found in milk and dairy products, potentially leading to severe health complications if left untreated. Early detection through this test is vital for effective management and treatment.
What the Test Measures
This test specifically detects mutations in the GALT gene using PCR sequencing, allowing healthcare providers to confirm a diagnosis of galactosemia. By identifying these genetic mutations, doctors can develop a tailored treatment plan for affected individuals.
Who Should Consider This Test
Parents of newborns or young children displaying symptoms such as jaundice, lethargy, poor feeding, or developmental delays should consider this test. Additionally, individuals with a family history of galactosemia or those at risk due to genetic factors should also seek testing.
Benefits of Taking the Test
- Early diagnosis of galactosemia can prevent serious complications.
- Guides dietary and medical management for affected individuals.
- Provides peace of mind for families with a history of metabolic disorders.
- Facilitates informed decision-making regarding future pregnancies.
Understanding Your Results
Results from the Galactosemia GALT Gene Mutation Detection Test will indicate whether mutations are present in the GALT gene. A positive result confirms the diagnosis of galactosemia, while a negative result suggests that the individual does not carry the mutations associated with the disorder. It is important to discuss results with a healthcare provider to understand the implications and next steps.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 23,000 KSh | 36,000 KSh |
Sample Collection Information
Sample type: 4 mL (2 mL min.) whole blood from 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for test processing.
Branches and Booking
We have branches across major cities in Kenya, including Nairobi, Mombasa, and Kisumu. Our home sample collection service is also available for your convenience. To book the Galactosemia GALT Gene Mutation Detection Test, please call or WhatsApp us at +254711564616.
Don’t wait for symptoms to worsen; ensure your child’s health by booking this essential test today!
