GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test
Introduction to the GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test
The GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test is a specialized diagnostic test designed to identify mutations in the GBA gene, which are responsible for Gaucher disease type 2, a rare metabolic disorder. Early detection is essential for effective management and treatment, making this test a vital tool for patients who may be at risk.
What the Test Measures
This genetic test employs Next Generation Sequencing (NGS) technology to detect specific mutations in the GBA gene. By analyzing the DNA, the test can identify the presence of genetic variations that may lead to Gaucher disease type 2.
Who Should Consider This Test?
Individuals who exhibit symptoms such as:
- Neurological issues
- Enlarged liver or spleen
- Bone pain or fractures
- Family history of Gaucher disease
Additionally, those with risk factors, including Ashkenazi Jewish ancestry, should consider this test for proactive health management.
Benefits of Taking the Test
- Early diagnosis can lead to timely interventions and treatment.
- Understanding genetic risks helps in making informed health decisions.
- Facilitates genetic counseling for family planning and management.
- Provides peace of mind for individuals concerned about their genetic health.
Understanding Your Results
Results from the GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test will indicate whether any mutations are present. A positive result may warrant further clinical evaluation and management options, while a negative result can provide reassurance. It’s essential to discuss results with a healthcare provider to understand their implications fully.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test Today!
To book the GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Ensure you have a clinical history available and consider a genetic counseling session to discuss family history related to Gaucher disease.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Gaucher disease type 2 are recommended.
This test falls under the specialty of General Physician and the department of Genetics, utilizing NGS technology to diagnose metabolic disorders effectively.
