PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1 NGS Genetic DNA Test
Introduction
The PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1 NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a vital role in identifying genetic mutations responsible for infantile neuroaxonal dystrophy (INAD). This condition is a rare neurological disorder that leads to progressive neurodegeneration, primarily affecting infants and young children. Understanding the genetic basis of this disorder is crucial for early diagnosis and management, making this test an essential resource for families at risk.
What the Test Measures
This genetic test specifically analyzes the PLA2G6 gene, which is associated with infantile neuroaxonal dystrophy type 1. By utilizing Next-Generation Sequencing (NGS) technology, the test detects mutations or alterations in the PLA2G6 gene that may lead to the development of this disorder.
Who Should Consider This Test
The PLA2G6 Gene test is recommended for individuals who exhibit symptoms such as:
- Early developmental delays
- Loss of motor skills
- Progressive vision loss
- Abnormal muscle tone
Additionally, individuals with a family history of neurological disorders or those who have been advised by a neurologist or genetic counselor should consider this test.
Benefits of Taking the Test
- Identifies genetic mutations associated with INAD, allowing for early diagnosis.
- Informs families about potential risks and management strategies.
- Facilitates genetic counseling and planning for affected families.
- Provides peace of mind through understanding genetic predispositions.
Understanding Your Results
Upon completion of the test, results will be provided along with a detailed explanation. It is essential to discuss these results with a healthcare professional or genetic counselor to understand the implications for health management and potential interventions.
Test Pricing
Test Name | Price (NGN) |
---|---|
PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1 NGS Genetic DNA Test | Discount Price: 400,000 NGN |
Regular Price: 560,000 NGN |
Book the Test
To book the PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and guide you through the booking process.
Turnaround Time and Sample Type
The test has a turnaround time of 3 to 4 weeks. Sample types accepted include:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Pre-Test Instructions
Before undergoing the PLA2G6 Gene test, it is important to have a clinical history of the patient prepared. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected with PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1.