Nx Gen Sequencing Microphtahlmia Anophthalmia Coloboma Spectrum Test
Introduction
The Nx Gen Sequencing Microphtahlmia Anophthalmia Coloboma Spectrum Test is a state-of-the-art genetic test that utilizes Next Generation Sequencing (NGS) technology to identify genetic mutations associated with various eye defects, including microphtahlmia, anophthalmia, and coloboma. Understanding these defects is crucial for timely diagnosis and management, allowing for better treatment outcomes.
What the Test Measures
This test specifically measures mutations in a comprehensive panel of genes that are known to be associated with eye 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 or having a family history of eye defects such as:
- Microphtahlmia (abnormally small eyes)
- Anophthalmia (absence of one or both eyes)
- Coloboma (a defect in the eye structure)
- Family history of congenital eye defects
Benefits of Taking the Test
- Accurate diagnosis of genetic eye disorders
- Informed decision-making regarding treatment options
- Understanding potential hereditary risks for family planning
- Access to specialized care and support services
Understanding Your Results
Results from the Nx Gen Sequencing Test will provide insights into the specific genetic mutations present. A genetic counselor will help interpret the results and discuss potential implications for treatment and family planning.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Nx Gen Sequencing Microphtahlmia Anophthalmia Coloboma Spectrum Test | 57,330 KSh | 63,700 KSh |
Sample Collection and Instructions
To perform this test, a sample of 10 mL (5 mL min.) whole blood is required, collected in two Lavender Top (EDTA) tubes. The sample must be shipped refrigerated and should not be frozen. A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Branches and Booking
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. To book your test, please call or WhatsApp us at +254711564616. Don’t wait to get the answers you need for your eye health!