GBA Gene Gaucher Disease Perinatal Lethal NGS Genetic DNA Test
Introduction
The GBA Gene Gaucher Disease Perinatal Lethal NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify genetic mutations associated with Gaucher disease, a metabolic disorder that can have severe implications for newborns. This test is critical for families with a history of the disease, allowing for early detection and intervention.
What the Test Measures
This test specifically detects mutations in the GBA gene, which are responsible for Gaucher disease. By utilizing Next Generation Sequencing (NGS) technology, the test offers high sensitivity and specificity, ensuring accurate results.
Who Should Consider This Test?
Individuals or families with a known history of Gaucher disease or related metabolic disorders should consider this test. Symptoms may include:
- Enlarged liver or spleen
- Bone pain or fractures
- Fatigue
- Neurological issues in severe cases
Risk factors include family history and genetic predisposition.
Benefits of Taking the Test
- Early detection of genetic risks associated with Gaucher disease.
- Informed decision-making for family planning and management.
- Access to genetic counseling and support.
- Peace of mind for expecting families.
Understanding Your Results
Results will indicate whether the GBA gene mutations are present. A genetic counselor will help interpret the results and discuss potential implications for the patient and family members.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| GBA Gene Gaucher Disease Perinatal Lethal NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait for symptoms to appear. Ensure your family’s health by booking the GBA Gene Gaucher Disease Perinatal Lethal NGS Genetic DNA Test today! For more information or to schedule your test, call or WhatsApp us at +2348077798758.
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on an FTA card. Pre-test instructions involve a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Gaucher disease.
Specialty: General Physician, Department: Genetics, Method: NGS Technology, Disease Type: Metabolic Disorders.
