ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital NGS Genetic DNA Test
Introduction
The ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital NGS Genetic DNA Test is a vital diagnostic tool aimed at identifying genetic mutations responsible for metabolic disorders related to bile acid synthesis. This test utilizes Next Generation Sequencing (NGS) technology to deliver precise and reliable results. Understanding the genetic basis of these disorders is crucial for effective management and treatment.
What the Test Measures
This genetic test measures the presence of mutations in the ABCD3 gene, which plays a significant role in bile acid synthesis. By analyzing the genetic material, healthcare providers can determine if a patient has a congenital bile acid synthesis defect, which can lead to serious health complications.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Patients presenting with symptoms of metabolic disorders, such as jaundice, failure to thrive, or liver dysfunction.
- Individuals with a family history of bile acid synthesis defects.
- Patients who have been advised by a healthcare provider to undergo genetic testing for a better understanding of their condition.
Benefits of Taking the Test
The ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital NGS Genetic DNA Test offers several benefits:
- Early diagnosis of metabolic disorders, allowing for timely intervention.
- Guidance for personalized treatment plans based on genetic findings.
- Informed family planning decisions for individuals with a known family history of metabolic disorders.
Understanding Your Results
Results from the ABCD3 Gene Bile Acid Synthesis Defect Type 5 test will be provided along with a comprehensive report. It is essential to discuss the results with a healthcare provider who can guide you through the implications and potential next steps based on your specific situation.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Book Your Test
We have branches across Kenya, making it convenient for you to access our services. To book the ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Our dedicated team is here to assist you in scheduling your appointment and answering any questions you may have.
Pre-Test Instructions
Before undergoing the ABCD3 Gene Bile Acid Synthesis Defect Type 5 test, it is recommended to have a genetic counselling session. This session will help create a pedigree chart of family members affected by bile acid synthesis defects, which is crucial for accurate testing and interpretation.
Sample Type and Turnaround Time
Sample Type: Blood
Turnaround Time: 3 to 4 Weeks
