Leber Congenital Amaurosis Panel
Use
This test is intended for individuals who exhibit symptoms associated with Leber congenital amaurosis (LCA) or have a clinical or suspected diagnosis of the condition. It is crucial for those with the onset of visual symptoms at birth or within the first few months. The test aims to identify genetic variants in the 28 genes associated with LCA, providing critical information for diagnosis, management, and family planning.
Special Instructions
The testing is available through both Exome and Genome platforms, allowing flexibility based on the individual's needs. STAT testing is available, reducing the turnaround time for urgent cases. It is important to provide detailed clinical information and specify if exome-wide CNV analysis is needed.
Limitations
While the test covers 28 genes associated with Leber Congenital Amaurosis, it may not detect all possible genetic variations involved in the condition. It is primarily focused on the selected gene list and may not identify variants outside these targets. Technical limitations inherent to NGS platforms, such as detection of low-frequency variants and certain structural variants, need to be considered.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided