GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test
Introduction to the Test
The GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test is a specialized diagnostic tool that plays a significant role in understanding Gaucher disease, a rare metabolic disorder. This test utilizes Next Generation Sequencing (NGS) technology to identify mutations in the GBA gene, which are responsible for the development of Gaucher disease type 3C. Early detection through this test is crucial for managing symptoms and improving the quality of life for affected individuals.
What the Test Measures
This genetic test measures specific mutations in the GBA gene that are linked to Gaucher disease type 3C. By analyzing the DNA, the test can detect whether an individual carries these mutations, providing valuable insights into their genetic predisposition to the disorder.
Who Should Consider This Test?
Individuals who should consider the GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test include:
- Those with a family history of Gaucher disease type 3C.
- Individuals experiencing symptoms such as enlargement of the liver or spleen, bone pain, or neurological issues.
- Patients with risk factors, including Ashkenazi Jewish ancestry, where Gaucher disease is more prevalent.
Benefits of Taking the Test
Taking the GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test offers several benefits:
- Early detection of genetic mutations, allowing for proactive health management.
- Informed decision-making regarding treatment options and lifestyle adjustments.
- Understanding of potential risks for family members, aiding in genetic counseling.
Understanding Your Results
Once the test is completed, results will indicate whether any mutations in the GBA gene have been detected. It is essential to consult with a healthcare professional to interpret these results accurately and discuss potential next steps, including treatment options and further genetic counseling.
Test Details and Pricing
Test Name | GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test |
---|---|
Discount Price | 400000 NGN |
Regular Price | 560000 NGN |
Book the Test
To take the first step towards understanding your genetic health, book the GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test today. For inquiries or to schedule your test, please call or WhatsApp us at +2348077798758.
Turnaround time for the test results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Gaucher disease type 3C are recommended.