Nx Gen Sequencing Microphtalmia Anophthalmia Coloboma Spectrum Test
Introduction
The Nx Gen Sequencing Microphtalmia Anophthalmia Coloboma Spectrum Test is a comprehensive genetic analysis designed to identify mutations in genes associated with severe eye defects, including microphtalmia, anophthalmia, and coloboma. This test is crucial for providing accurate diagnoses, enabling healthcare providers to tailor management strategies effectively for affected individuals.
What the Test Measures
This advanced test utilizes Next Generation Sequencing (NGS) and Sanger sequencing methods to detect variations in a panel of genes linked to ocular development. Key components analyzed include:
- ABCB6
- ALDH1A3
- BCOR
- BMP4
- CHD7
- ERCC1
- ERCC2
- ERCC5
- ERCC6
- FOXE3
- FOXL2
- FRAS1
- FREM1
- FREM2
- GDF3
- GDF6
- GJA1
- GRIP1
- HCCS
- HESX1
- HMGB3
- HMX1
- MAB21L2
- MFRP
- NAA10
- NDP
- OCRL
- OTX2
- PAX2
- PAX6
- PRSS56
- PXDN
- RAB18
- RAB3GAP1
- RAB3GAP2
- RARB
- RAX
- RBP4
- SALL2
- SALL4
- SHH
- SIX3
- SIX6
- SMOC1
- SOX2
- STRA6
- TBC1D20
- TENM3
- TFAP2A
- VAX1
- VSX2
Who Should Consider This Test?
This test is recommended for individuals exhibiting symptoms of severe eye abnormalities, such as:
- Microphthalmia (abnormally small eyes)
- Anophthalmia (absence of one or both eyes)
- Coloboma (defects in the eye structure)
Additionally, those with a family history of these conditions or known genetic disorders may benefit from this test.
Benefits of Taking the Test
- Accurate diagnosis of eye defects, aiding in early intervention.
- Guidance for potential treatment options and management strategies.
- Informed family planning for those with a genetic predisposition.
- Peace of mind through understanding genetic risks.
Understanding Your Results
Upon completion of the test, results will be provided within 45 working days. These results will include detailed insights into any identified genetic mutations, their implications, and recommendations for further action or treatment. It is essential to discuss these results with a qualified healthcare provider for comprehensive understanding and guidance.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| Nx Gen Sequencing Microphtalmia Anophthalmia Coloboma Spectrum Test | 573300 | 637000 |
Book Your Test Today!
Don’t wait to gain valuable insights into your eye health. Contact us at +2348077798758 to book your Nx Gen Sequencing Microphtalmia Anophthalmia Coloboma Spectrum Test today! Our dedicated team at DNA Labs Nigeria is here to assist you with any questions you may have.