Casandra
Casandra Test Code QD08791Version 1 (DRAFT)
Performing Lab
Lab Quest DiagnosticsLab Test ID 90949
Prenatal Carrier Screen (CF, Fragile X, SMA)
Clinical Use
Order TestUse
This prenatal carrier screening panel assesses parental carrier status for three inherited conditions—cystic fibrosis (CF), Fragile X syndrome, and spinal muscular atrophy (SMA)—to help estimate reproductive risk in a prenatal or preconception setting. It includes CF screening via an expanded CFvantage® panel, X‑linked Fragile X testing (XSense® with reflex to methylation analysis), and SMA carrier detection including silent carrier (2+0) risk variant analysis.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
PCR-based (PCR)
Biomarkers
3 components
Cystic Fibrosis Screen (CFvantage Expanded Panel) • PCRFragile X Screen (XSense with Reflex) • PCRSMA Carrier Screen (including SMN1 copy number and silent 2+0 risk variant) • PCR
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
4 mL (4 mL minimum)
Minimum Volume
Not provided
Container
EDTA (lavender‑top) tube
Collection Instructions
Normal phlebotomy procedure.
Storage Instructions
Store and ship room temperature immediately. Do not freeze.