Casandra
Casandra Test Code PG99409Version 1 (DRAFT)
Performing Lab
Ciliopathy Panel
Clinical Use
Order TestUse
This test is designed for individuals exhibiting clinical features or suspected diagnosis of ciliopathy disorders. It is particularly recommended for those with abnormal brain MRI findings, such as the 'molar tooth sign', which are indicative of ciliopathy disorders.
Special Instructions
This test requires a completed order form or online order via myPrevent, along with a labeled specimen for processing. New York-specific documentation is needed for specimens collected in New York State.
Limitations
This test has not been cleared or approved by the US Food and Drug Administration. It is developed and validated by PreventionGenetics under CLIA and CAP regulations.
Test Details
New York Approved
Methodology
NGS (CGP)
Biomarkers
This component involves Next-Generation Sequencing (NGS) with Copy Number Variation (CNV) analysis utilizing either exome or genome platforms. It targets diagnosing ciliopathy disorders.
No genes
GeneSNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided