Anterior Segment Dysgenesis Disorders Panel
Use
This test is intended for individuals who have a clinical or suspected diagnosis of an anterior segment dysgenesis disorder, including both isolated and syndromic ocular features. It aids in confirming a diagnosis, guiding treatment decisions, and providing information for genetic counseling. The panel covers 278 genes associated with these conditions.
Special Instructions
STAT testing options are available, which reduce the standard turnaround time. The test is New York approved, enabling it to be available to patients within that state.
Limitations
The test is not cleared or approved by the US Food and Drug Administration, but it is validated under CLIA regulations. Limitations include potential false negatives due to the complexity of genetic heterogeneity inherent in anterior segment dysgenesis disorders. Results should be interpreted in conjunction with clinical findings and family history.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided