EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test
Introduction to the Test
The EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test is a specialized diagnostic tool that plays a pivotal role in identifying hereditary spherocytosis, a condition characterized by the production of abnormal red blood cells. This test utilizes Next Generation Sequencing (NGS) technology to analyze the EPB42 gene, which is known to be associated with this disorder. Understanding your genetic predisposition to this condition is essential for effective management and treatment options.
What the Test Measures
This test detects mutations in the EPB42 gene that may lead to hereditary spherocytosis. By analyzing the genetic makeup, healthcare providers can ascertain whether a patient carries mutations that contribute to the disease’s manifestation.
Who Should Consider This Test?
Individuals who exhibit symptoms such as anemia, jaundice, or splenomegaly (enlarged spleen) should consider this test. Additionally, those with a family history of hereditary spherocytosis or related conditions are encouraged to undergo testing to better understand their genetic risks.
Benefits of Taking the Test
- Accurate diagnosis of hereditary spherocytosis.
- Informed decision-making regarding treatment options.
- Ability to assess risk for family members.
- Access to tailored medical care based on genetic findings.
Understanding Your Results
Upon completion of the test, results will indicate whether any mutations in the EPB42 gene have been detected. A genetic counselor will assist in interpreting these results, providing clarity on their implications for your health and that of your family.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Instructions
To book the EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test, please contact us at +2348077798758. We recommend scheduling a genetic counseling session prior to the test to discuss your clinical history and create a pedigree chart of affected family members.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test includes blood or extracted DNA, or one drop of blood on an FTA card. It is essential to provide a comprehensive clinical history for accurate testing.
