Prenatal Carrier Panel (CFvantage®, Fragile X, SMA)
Use
This germline genetic screening panel assesses carrier status for three inherited disorders—Cystic Fibrosis (via the CFvantage® Expanded Screen), Fragile X syndrome (via XSense® with reflex to methylation if indicated), and Spinal Muscular Atrophy (SMA) with silent carrier detection—supporting preconception or early prenatal risk assessment and enabling appropriate genetic counseling and partner testing where relevant (e.g., if one parent is a carrier).
Special Instructions
Not provided.
Limitations
Frozen specimens are unacceptable. Stability limited to 7 days at room temperature or 8 days refrigerated. Some components (e.g., Fragile X methylation) are reflex and incur additional charge. Analytical coverage reflects expanded CF variants but may not include all rare alleles. Consent and ordering restrictions apply by jurisdiction.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
3 mL
Container
EDTA (lavender-top) tube
Collection Instructions
Normal phlebotomy procedure.
Storage Instructions
Store and ship room temperature immediately. Do not freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 8 days |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant