Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test
Introduction
The Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test is an essential diagnostic tool designed to identify various lysosomal storage disorders (LSDs). These genetic conditions arise from enzyme deficiencies that lead to the accumulation of toxic substances in the body, resulting in various metabolic disorders. Early detection through this advanced test can significantly impact patient outcomes by facilitating timely intervention and management.
What the Test Measures
This genetic test employs Next Generation Sequencing (NGS) technology to detect mutations in genes associated with lysosomal storage disorders. By analyzing the patient’s DNA, the test identifies specific enzyme deficiencies that are indicative of LSDs.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Patients presenting symptoms of metabolic disorders, such as developmental delays, organ enlargement, or skeletal abnormalities.
- Individuals with a family history of lysosomal storage disorders.
- Newborns exhibiting signs of metabolic dysfunction.
- Patients undergoing genetic counseling for hereditary conditions.
Benefits of Taking the Test
- Accurate identification of genetic disorders enabling targeted treatment options.
- Informed decision-making for families regarding management and future pregnancies.
- Access to specialized care and support services.
- Peace of mind through understanding one’s genetic health status.
Understanding Your Results
Results from the Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test will provide insights into the presence of specific enzyme deficiencies. It is crucial to discuss these results with a healthcare provider, who can guide patients on the next steps, treatment options, and management strategies.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 600,000 NGN |
Book the Test
To schedule your Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to book your appointment. Early detection can make a significant difference in managing lysosomal storage disorders.
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 is required, along with a genetic counseling session to draw a pedigree chart of family members affected by lysosomal storage disorders.
