SLC25A13 Gene Citrin Deficiency NGS Genetic DNA Test
Introduction
The SLC25A13 Gene Citrin Deficiency NGS Genetic DNA Test is a vital diagnostic tool designed to detect mutations in the SLC25A13 gene, which are responsible for Citrin deficiency, a rare metabolic disorder. This condition can lead to serious health complications, including severe liver dysfunction and metabolic crises. Early detection through genetic testing is crucial for effective management and treatment.
What the Test Measures
This test uses Next Generation Sequencing (NGS) technology to analyze the SLC25A13 gene for specific mutations. By identifying these mutations, healthcare providers can confirm a diagnosis of Citrin deficiency, allowing for tailored treatment strategies.
Who Should Consider This Test
Individuals who exhibit symptoms of Citrin deficiency, such as:
- Severe hypoglycemia
- Jaundice
- Growth retardation
- Metabolic crises
Additionally, those with a family history of metabolic disorders or known mutations in the SLC25A13 gene should consider this test, as it can provide essential information for risk assessment and management.
Benefits of Taking the Test
- Accurate diagnosis of Citrin deficiency.
- Informed treatment planning and management.
- Understanding genetic risk for family members.
- Access to specialized care and support.
Understanding Your Results
Results from the SLC25A13 Gene Citrin Deficiency NGS Genetic DNA Test will indicate whether mutations are present in the SLC25A13 gene. A positive result confirms the diagnosis, while a negative result may indicate that Citrin deficiency is not the cause of the symptoms. It is essential to discuss your results with a healthcare provider for proper interpretation and guidance.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 40,000 KSh | 56,000 KSh |
Sample Type and Pre-Test Instructions
The sample type required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
Before the test, patients are advised to undergo a genetic counseling session to draw a pedigree chart of family members affected by Citrin deficiency, as this information is crucial for accurate interpretation of results.
Availability
We have branches across all major cities in Kenya, and we offer home sample collection services for your convenience. To book the SLC25A13 Gene Citrin Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Don’t wait for symptoms to worsen. Get tested today and take the first step towards better health!
