LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test
Introduction to the Test
The LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test is a groundbreaking diagnostic tool designed to identify genetic mutations associated with Cholesteryl Ester Storage Disease (CESD). This condition is a rare metabolic disorder that affects how the body processes cholesterol and fat. Understanding your genetic predisposition is crucial for early diagnosis and effective management of CESD.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the LIPA gene, which is responsible for encoding the enzyme lipase. Mutations in this gene can lead to the accumulation of cholesterol esters and triglycerides in various tissues, leading to significant health complications.
Who Should Consider This Test?
Individuals with a family history of metabolic disorders, particularly those showing symptoms such as:
- Fatigue
- Enlarged liver or spleen
- High cholesterol levels
- Cardiovascular issues
are encouraged to consider this genetic test. Additionally, those who have undergone clinical evaluations indicating potential metabolic dysfunction may also benefit from testing.
Benefits of Taking the Test
The LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test offers several benefits:
- Early Detection: Identifying genetic risks can lead to early intervention and management.
- Informed Treatment Decisions: Understanding your genetic makeup helps healthcare providers tailor treatment plans effectively.
- Family Planning: Genetic counseling following the test can assist families in understanding inheritance patterns.
Understanding Your Results
Results from the LIPA Gene test will be provided in a clear format, detailing whether any mutations were found. A genetic counselor will guide you through the implications of your results, helping you understand the significance and next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
Don’t wait to understand your genetic health! To book the LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with scheduling your test and providing any additional information you may need.
Additional Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Cholesteryl Ester Storage Disease.
- Specialty: General Physician
- Department: Genetics
- Method: NGS Technology
- Disease Type: Metabolic Disorders
