LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test
Introduction
The LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test is a revolutionary diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to identify genetic mutations associated with Cholesteryl Ester Storage Disease (CESD). This condition is a rare metabolic disorder caused by mutations in the LIPA gene, leading to the accumulation of lipids in various tissues. Early diagnosis is crucial for effective management and treatment of this disorder.
What the Test Measures
This genetic test measures specific mutations in the LIPA gene, which are responsible for CESD. By analyzing the DNA, healthcare providers can determine the presence of these mutations, which helps in understanding the risk of developing the disease.
Who Should Consider This Test?
Individuals who may benefit from the LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test include:
- Those with a family history of metabolic disorders.
- Individuals showing symptoms such as elevated cholesterol levels, liver enlargement, or unexplained abdominal pain.
- People undergoing genetic counseling or those with a known diagnosis of CESD.
Benefits of Taking the Test
- Early detection and diagnosis of Cholesteryl Ester Storage Disease.
- Informed decision-making regarding treatment options.
- Ability to assess risk for family members.
- Access to personalized management plans based on genetic findings.
Understanding Your Results
Your test results will indicate whether specific mutations in the LIPA gene are present. A genetic counselor will help interpret these results, explaining their implications for your health and that of your family. Understanding these results is vital for planning further management and treatment.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Booking Information
We have branches across Kenya, providing convenient access to our services. To book the LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test, please call or WhatsApp us at +254746849631. Take the first step towards understanding your health today!
Additional Test 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 by Cholesteryl Ester Storage Disease.
This test is performed by qualified professionals in the field of genetics and is crucial for diagnosing metabolic disorders. Trust DNA Labs Kenya for accurate and reliable testing.
