Nx Gen Sequencing Microphthalmia Anophthalmia Coloboma Spectrum Test
Comprehensive Genetic Analysis for Congenital Eye Disorders
The Nx Gen Sequencing Microphthalmia Anophthalmia Coloboma (MAC) Spectrum Test represents a breakthrough in genetic diagnostics for congenital eye development disorders. This advanced next-generation sequencing panel provides comprehensive analysis of over 50 genes associated with microphthalmia (abnormally small eyes), anophthalmia (complete absence of eyes), and coloboma (structural gaps in eye tissues). These conditions represent a spectrum of congenital eye malformations that can significantly impact vision and overall eye health.
What This Test Detects and Measures
Our comprehensive genetic panel analyzes mutations in key developmental genes including:
- SOX2, OTX2, PAX6 – Critical transcription factors for eye development
- BCOR, CHD7 – Genes associated with syndromic forms of eye defects
- BMP4, SHH, SIX3 – Essential signaling pathways in ocular morphogenesis
- STRA6, RBP4 – Vitamin A metabolism genes crucial for eye formation
- Multiple DNA repair genes including ERCC family members
The test utilizes cutting-edge Next Generation Sequencing (NGS) technology combined with Sanger sequencing validation to ensure maximum accuracy and reliability in detecting both common and rare genetic variants.
Who Should Consider This Genetic Test
This comprehensive genetic analysis is recommended for individuals presenting with:
- Congenital microphthalmia (unilateral or bilateral)
- Clinical anophthalmia or severe microphthalmia
- Ocular coloboma affecting iris, retina, or optic nerve
- Family history of congenital eye malformations
- Multiple congenital anomalies involving eye development
- Unexplained childhood vision impairment
- Suspected genetic syndromes with ocular involvement
Clinical Benefits of Genetic Testing
Undergoing genetic testing for MAC spectrum disorders provides numerous advantages:
- Accurate Diagnosis: Confirms genetic etiology and distinguishes between isolated and syndromic forms
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Personalized Management: Guides appropriate medical interventions and surveillance
- Therapeutic Guidance: Informs potential treatment approaches and clinical trials
- Psychological Relief: Provides answers and reduces diagnostic uncertainty
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Identifies a pathogenic variant explaining the clinical presentation
- Negative Result: No disease-causing variants detected in analyzed genes
- Variant of Uncertain Significance (VUS): Genetic change with unclear clinical impact
- Carrier Status: Identifies recessive conditions for family planning
All results include detailed clinical correlations and recommendations for follow-up care. Genetic counseling is strongly recommended to fully understand the implications of your test results.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Nx Gen Sequencing Microphthalmia Anophthalmia Coloboma Spectrum Test – Discount Price | $716 |
| Nx Gen Sequencing Microphthalmia Anophthalmia Coloboma Spectrum Test – Regular Price | $796 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services nationwide.
Sample Requirements and Processing
Sample Type: Submit 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE.
Turnaround Time: Samples processed daily by 9 AM; Reports delivered within 45 working days
Pre-test Requirement: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory
Take the Next Step Toward Genetic Clarity
If you or your child are affected by congenital eye development disorders, genetic testing can provide essential answers and guide appropriate medical management. Our comprehensive Nx Gen Sequencing MAC Spectrum Test offers the most advanced genetic analysis available for these conditions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Our specialists are available to answer your questions and help you understand how genetic testing can benefit your specific situation.
Early genetic diagnosis can make a significant difference in managing congenital eye disorders and planning for the future. Don’t wait to get the answers you need – contact us now to begin your genetic testing journey.
