DRPLA Dentatorubralpallidoluysian Atrophy Gene Analysis Test
Introduction to the Test
The DRPLA Dentatorubralpallidoluysian Atrophy Gene Analysis Test is a specialized genetic test designed to detect expansions in the CAG repeat of the ATN1 gene. This test is crucial for diagnosing Dentatorubralpallidoluysian Atrophy (DRPLA), a rare genetic disorder that primarily affects the nervous system. By identifying genetic mutations, healthcare providers can offer targeted interventions and management strategies to improve patient outcomes.
What the Test Measures
This test specifically measures the number of CAG repeats in the ATN1 gene. An increased number of CAG repeats is associated with the development of DRPLA, leading to various neurological symptoms including movement disorders, cognitive decline, and psychiatric issues.
Who Should Consider This Test?
Individuals who may benefit from the DRPLA Gene Analysis Test include:
- Those with a family history of DRPLA or related neurologic disorders.
- Patients exhibiting symptoms such as movement abnormalities, cognitive changes, or psychiatric symptoms.
- Individuals seeking genetic counseling for family planning purposes.
Benefits of Taking the Test
Undergoing the DRPLA Gene Analysis Test offers several advantages:
- Early diagnosis and intervention can significantly improve quality of life.
- Informed decision-making regarding treatment and management options.
- Genetic counseling for family members regarding hereditary risks.
Understanding Your Results
Results from the DRPLA Gene Analysis Test will indicate whether the CAG repeat expansion is present. A positive result suggests a higher risk of developing DRPLA, while a negative result may alleviate concerns about this specific genetic condition. It is essential to discuss results with a healthcare provider for comprehensive interpretation and guidance.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
DRPLA Dentatorubralpallidoluysian Atrophy Gene Analysis Test | 150,000 NGN | 200,000 NGN |
How to Book the Test
To schedule your DRPLA Gene Analysis Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and answer any questions you may have.
Test Specifications
- Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Turnaround Time: Sample must be received by Monday at 11 AM; Report available by Friday.
- Pre-Test Instructions: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
- Method: PCR Fragment Analysis
- Specialty: Neurology
- Department: Molecular Diagnostics
- Disease Type: Neurologic Disorder