FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency NGS Genetic DNA Test
Introduction to the Test
The FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the FBP1 gene, which is critical in the metabolic pathway of glucose production. This test is essential for diagnosing Fructose-1,6-bisphosphatase deficiency, a rare metabolic disorder that can lead to severe hypoglycemia and other metabolic complications.
What the Test Measures
This test measures the presence of genetic mutations in the FBP1 gene using Next Generation Sequencing (NGS) technology. It provides a comprehensive analysis of the gene to detect any abnormalities that may affect its function.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Those experiencing symptoms of hypoglycemia, such as dizziness, confusion, or seizures.
- Individuals with a family history of metabolic disorders or unexplained metabolic crises.
- Patients referred by a general physician or a genetic counselor for further genetic evaluation.
Benefits of Taking the Test
Undergoing the FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency NGS Genetic DNA Test offers several advantages:
- Early diagnosis can lead to timely intervention and management strategies.
- Understanding your genetic predisposition can aid in making informed lifestyle choices.
- Provides valuable information for family planning and genetic counseling.
Understanding Your Results
Results from the test will indicate whether any mutations are present in the FBP1 gene. A genetic counselor will assist in interpreting the results, providing guidance on potential health implications and necessary follow-up actions.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and providing further information on pre-test instructions, including the need for a genetic counseling session to draw a pedigree chart of family members affected by this condition.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: Clinical history of the patient is required prior to testing.
