Casandra
Casandra Test Code PG74642Version 1 (DRAFT)
Performing Lab
Gaucher Disease via the GBA1/GBA Gene
Clinical Use
Order TestUse
This test is aimed at individuals who have a clinical or suspected diagnosis of Gaucher disease or are of Ashkenazi Jewish descent, who have a high carrier frequency. The test is also relevant for reproductive partners of individuals with a known pathogenic variant in the GBA1 gene.
Special Instructions
Not provided.
Limitations
This test was developed and its performance characteristics validated by the laboratory as per CLIA and CAP guidelines but has not been FDA approved. Genetic testing should be used in conjunction with other clinical findings and biochemical testing.
Test Details
New York Approved
Methodology
Sanger
Biomarkers
No genes
GeneMutation Detection
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided