Early-Onset Bilateral Cataracts Sponsored Testing Program
Use
The Early-Onset Bilateral Cataracts Sponsored Testing Program offers free genetic testing for patients with idiopathic bilateral cataracts, aiming to identify genetic mutations associated with early-onset cataract development. This program is crucial for providing insights into hereditary cataracts, potentially influencing patient management and family counseling.
Special Instructions
Testing is provided at no charge to eligible patients who meet the criteria. Genetic counseling services are available through Genome Medical, a national telegenetics provider, at no cost. Healthcare providers must obtain informed consent for testing.
Limitations
This test is not suitable for patients with suspected congenital cataracts. Buccal swab specimens may be contaminated with microbial and food DNA, which can affect specimen quality and result in delayed testing or a request for an additional specimen.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 ml - 5 ml
Minimum Volume
1 ml for small infants
Container
EDTA (purple top tube) or ACD (yellow top tube)
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | 1 month |