PLOD1 Gene Ehlers-Danlos Syndrome Type 6 NGS Genetic DNA Test
Introduction
The PLOD1 Gene Ehlers-Danlos Syndrome Type 6 NGS Genetic DNA Test is a revolutionary diagnostic tool designed to identify mutations in the PLOD1 gene, which plays a critical role in collagen synthesis. Understanding these genetic factors is essential for diagnosing and managing Ehlers-Danlos syndrome type 6, a connective tissue disorder characterized by skin hyperelasticity, joint hypermobility, and tissue fragility. This test is crucial for patients and families affected by this condition, providing clarity and guiding treatment options.
What the Test Measures
This genetic test specifically measures mutations in the PLOD1 gene, which can lead to the development of Ehlers-Danlos syndrome type 6. By analyzing the DNA, healthcare providers can determine if a patient has inherited or developed mutations that could impact their health.
Who Should Consider This Test?
Individuals experiencing symptoms such as:
- Skin that is easily bruised or hyper-elastic
- Joint hypermobility
- Frequent joint dislocations
- Delayed wound healing
Additionally, those with a family history of Ehlers-Danlos syndrome or related connective tissue disorders should consider this test for early diagnosis and management.
Benefits of Taking the Test
- Accurate diagnosis of Ehlers-Danlos syndrome type 6
- Informed decisions regarding treatment and management strategies
- Understanding genetic risks for family members
- Access to specialized care and resources
Understanding Your Results
Once the test is complete, results will be reviewed by a qualified genetic counselor or healthcare professional. They will explain the findings, discuss implications for health, and provide guidance on potential next steps. It is essential to understand that a positive result indicates a mutation, while a negative result does not necessarily rule out the condition.
Test Pricing
Price Type | Amount (NGN) |
---|---|
Discount Price | 400,000 NGN |
Regular Price | 560,000 NGN |
Book the Test
To book the PLOD1 Gene Ehlers-Danlos Syndrome Type 6 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
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 who is going for the test, including a genetic counseling session to draw a pedigree chart of family members affected with the PLOD1 gene.