Stargardt Disease (STGD) and Macular Dystrophies Panel
Use
This test is designed for individuals with a clinical or suspected diagnosis of Stargardt disease or macular dystrophies. It is intended to assist in the diagnosis of individuals who present with relevant clinical features such as juvenile-onset macular degeneration or other associated symptoms. The test targets genetic variants known to cause or contribute to Stargardt disease and related macular dystrophies.
Special Instructions
The test is available for order on either the Exome or Genome platform, providing flexibility in testing options. Patients must consult with a healthcare provider to determine the suitability of this test. Testing can be done using blood, DNA, buccal, saliva, or tissue samples for the Exome platform, or blood and DNA samples for the Genome platform. Ensure to follow specific collection and shipping instructions for optimal results.
Limitations
This test analyzes 28 genes associated with Stargardt disease and macular dystrophies and might not detect all genetic variants that contribute to these conditions. Variants in genes outside of the panel will not be detected. The success of detecting CNV and single nucleotide variants depends on the quality of the DNA sample provided. As with all genetic tests, rare variants of uncertain significance might be identified and may require further research or familial studies for interpretation.
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