Prenatal Carrier Panel (CFvantage®, Fragile X, SMA)

Casandra

Casandra Test Code QD32963Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 93349CPT Codes 81220, 81243, 81244, 81329

Prenatal Carrier Panel (CFvantage®, Fragile X, SMA)

Clinical Use

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

This test requires physician attestation of informed consent in certain US states (AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD, VT), or if performed in MA. Normal phlebotomy procedure; specimen must be stored and shipped at room temperature or refrigerated (not frozen). Reflections: Fragile X methylation analysis is reflexively performed if PCR identifies a premutation/full mutation at additional charge.

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.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Targeted next‐generation sequencing–based panel assessing carrier variants in CF (expanded CFvantage® panel), Fragile X (via PCR with methylation reflex), and SMA (including SMN1 copy‑number and silent carrier g.27134T>G detection).

Mutation (4 genes)

SMN1SMN2FMR1CFTR