Casandra
Casandra Test Code GE31678Version 1 (DRAFT)
Performing Lab
Lab GeneDxLab Test ID 9012
Two Known Familial Variants in a Nuclear Gene
Clinical Use
Order TestUse
Targeted testing to determine presence or absence of two specific previously identified familial variants in a nuclear gene, enabling confirmation or exclusion of inheritance in a family context.
Special Instructions
Requires information on the two familial variants (e.g., gene, cDNA/protein/transcript details) and submission of copy of familial report or variant details. Positive control from a tested relative is recommended if prior testing was at another lab.
Limitations
Limited to detection of only the two known familial variants—inability to detect other variants, mosaicism, or variants outside the specified loci.
Test Details
Methodology
Sanger
Biomarkers
No genes
GeneSNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided