PHOX2A Gene Fibrosis of Extraocular Muscles Congenital Type 2 NGS Genetic DNA Test
Introduction
The PHOX2A Gene Fibrosis of Extraocular Muscles Congenital Type 2 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect genetic mutations associated with congenital fibrosis of the extraocular muscles. This condition can lead to significant ocular mobility issues, impacting the quality of life. Utilizing Next Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the PHOX2A gene, which is critical in diagnosing and managing this disorder.
What the Test Measures
This genetic test specifically measures mutations in the PHOX2A gene, which are known to cause congenital fibrosis of the extraocular muscles. By analyzing the genetic material, we can determine the presence of specific variants that may contribute to the development of this condition.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms such as:
- Limited eye movement
- Strabismus (crossed eyes)
- Ptosis (drooping eyelids)
- Family history of congenital muscle disorders
Additionally, those with risk factors associated with genetic conditions affecting eye movement should consult their healthcare provider about the benefits of this test.
Benefits of Taking the Test
- Accurate diagnosis of congenital fibrosis of the extraocular muscles.
- Informed treatment and management options based on genetic findings.
- Peace of mind for affected families through understanding genetic risks.
- Guidance for family planning and genetic counseling.
Understanding Your Results
Upon receiving your test results, our genetic counselors will help interpret the findings. It is essential to understand that a positive result indicates the presence of a mutation, which may require further medical evaluation and management. Conversely, a negative result can provide reassurance but does not rule out all genetic conditions.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| PHOX2A Gene Fibrosis of Extraocular Muscles Congenital Type 2 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait to get the answers you need. Book the PHOX2A Gene Fibrosis of Extraocular Muscles Congenital Type 2 NGS Genetic DNA Test today. For inquiries or to schedule your appointment, please call or WhatsApp us at +2348110567037.
