Lysosomal Storage Disorder Gene Panel
Introduction to the Lysosomal Storage Disorder Gene Panel
The Lysosomal Storage Disorder Gene Panel is a vital genetic test designed to detect mutations in genes associated with lysosomal storage disorders (LSDs). These rare genetic conditions occur when the body cannot properly break down certain substances due to enzyme deficiencies. Early diagnosis through this panel can significantly impact the management and treatment of affected individuals, allowing for timely medical intervention and improved quality of life.
What the Test Measures
This test measures and detects specific genetic mutations that can lead to various lysosomal storage disorders. By analyzing a sample of amniotic fluid, chorionic villi, or peripheral blood, the panel identifies mutations in key genes responsible for producing enzymes that help break down waste materials in the body.
Who Should Consider This Test
Individuals who may benefit from the Lysosomal Storage Disorder Gene Panel include:
- Those with a family history of lysosomal storage disorders.
- Individuals exhibiting symptoms such as developmental delays, organ enlargement, or neurological issues.
- Expectant parents concerned about genetic conditions in their unborn child.
Consultation with a healthcare provider is essential to determine if this test is appropriate based on individual risk factors and symptoms.
Benefits of Taking the Test
- Early diagnosis: Identifying genetic mutations can lead to earlier intervention and treatment.
- Informed family planning: Understanding genetic risks can aid in making informed decisions about future pregnancies.
- Management strategies: Results can guide healthcare providers in developing personalized treatment plans.
Understanding Your Results
Results from the Lysosomal Storage Disorder Gene Panel will indicate whether any mutations were detected. A genetic counselor or healthcare provider will help interpret the results and discuss potential implications for treatment or further testing. It is important to understand that not all mutations lead to disease, and further evaluation may be necessary.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Lysosomal Storage Disorder Gene Panel | 720,000 NGN | 960,000 NGN |
Pre-Test Instructions
The Lysosomal Storage Disorder Gene Panel can be conducted with a doctor’s prescription. Please note that prescriptions are not applicable for surgery, pregnancy cases, or individuals planning to travel abroad.
Turnaround Time and Sample Type
The typical turnaround time for test results is 4-6 weeks. Samples can be collected from:
- Amniotic fluid
- Chorionic villi
- Peripheral blood
Book Your Test Today!
Take control of your genetic health by booking the Lysosomal Storage Disorder Gene Panel today. For more information or to schedule your test, please call or WhatsApp us at +2348077798758.
