PABPN1 Gene Muscular Dystrophy Oculopharyngeal NGS Genetic DNA Test
Introduction to the Test
The PABPN1 Gene Muscular Dystrophy Oculopharyngeal NGS Genetic DNA Test is a specialized diagnostic tool designed to detect mutations in the PABPN1 gene, which are associated with oculopharyngeal muscular dystrophy (OPMD). This test is crucial for individuals who may be at risk of developing this condition, allowing for early diagnosis and management.
What the Test Measures
This test measures specific genetic variations in the PABPN1 gene. By utilizing Next-Generation Sequencing (NGS) technology, it provides a comprehensive analysis of the gene, identifying potential mutations that could lead to muscular dystrophy.
Who Should Consider This Test
Individuals who exhibit symptoms of oculopharyngeal muscular dystrophy, such as difficulty swallowing, muscle weakness, or eyelid drooping, should consider this test. Additionally, those with a family history of the condition or other neurological disorders may benefit from genetic testing.
Benefits of Taking the Test
- Early identification of genetic predispositions to muscular dystrophy.
- Informed decision-making regarding treatment and management options.
- Access to genetic counseling for better understanding of the condition.
- Ability to draw a pedigree chart for family members affected by the condition.
Understanding Your Results
Upon receiving your results, it is important to consult with a healthcare professional, preferably a neurologist or genetic counselor. They can provide guidance on the implications of your results and recommend appropriate next steps, whether that be monitoring, lifestyle changes, or treatment options.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 400,000 NGN | 560,000 NGN |
Book the Test
To take the PABPN1 Gene Muscular Dystrophy Oculopharyngeal NGS Genetic DNA Test, please contact us at +2348110567037 to book your appointment today. Our team at DNA Labs Nigeria is here to assist you with your genetic health needs.
Test Details
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 and a genetic counseling session to draw a pedigree chart of family members affected with PABPN1 Gene Muscular Dystrophy.
