Congenital Stationary Night Blindness Panel
Use
This test is intended for individuals with relevant features who have a clinical or suspected diagnosis of Congenital Stationary Night Blindness (CSNB). It involves the analysis of 17 genes associated with this condition. By identifying genetic mutations, this test can aid in the diagnosis and management of CSNB, helping to inform treatment decisions and understanding of the patient’s prognosis.
Special Instructions
The test can be ordered via the Exome or Genome platform with options for Exome-Wide CNV Analysis and STAT Testing, which incurs a surcharge and accelerates the process. Specimens can be sourced from different types dependent on the platform chosen.
Limitations
This genetic test does not guarantee detection of all possible mutations associated with Congenital Stationary Night Blindness. Some variants may not be identified due to limitations in the test platform or biological variability in gene expression. Variants of unknown significance may also be reported without clear clinical implications.
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