Pediatric Cataracts Panel
Use
This test is designed for individuals who present with cataracts either at birth or that develop during childhood. It is useful for diagnosing isolated cataracts or cataracts that are part of a syndrome. The panel covers 41 genes known to be associated with pediatric cataracts, allowing for a comprehensive genetic evaluation. This test can assist in early identification and management of hereditary cataract conditions impacting vision in children.
Special Instructions
The panel is performed using NGS with CNV analysis on an Exome or Genome platform. Options for Exome-wide CNV analysis and STAT testing are available. Healthcare providers must ensure informed consent is obtained and must complete either an online order or paper requisition form to initiate testing. It is important to consider prenatal options if indicated.
Limitations
While the test aims to identify genetic causes of pediatric cataracts, not all genetic variants are detectable. The panel may not detect all mutations in the included genes, and rare variants may exist that are not identified due to technological limitations. CNV analysis may not detect all types of deletions and duplications, especially smaller ones. Interpretations are based on current scientific knowledge and databases, which can evolve over time, potentially affecting variant classification.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided