CFvantage Cystic Fibrosis Expanded Screen

Casandra

Casandra Test Code QD29206Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 92068CPT Code 81220

CFvantage Cystic Fibrosis Expanded Screen

Also known as: CF Expanded Mutation Carrier Screen, CFTR Expanded Mutation Screen, Cystic Fibrosis Expanded Panel, CF155 Mutations, CF Carrier Screen

Clinical Use

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Use

This test serves as an expanded carrier screen for cystic fibrosis by analyzing disease‑causing pathogenic variants in the CFTR gene. It includes the 23 core variants recommended by ACMG/ACOG along with additional rare mutations associated with CF, aiding in identification of carrier status and assessment of reproductive risk. Residual risk data is provided based on ethnicity when results are negative.

Special Instructions

Insurance authorization is required prior to draw for outpatients; inpatients are acceptable without special forms. Indicate patient ethnicity for report determination of residual risk. This test replaces Quest code 10458 Cystic Fibrosis Screen.

Limitations

Rare false positive or false negative results may occur; results should be interpreted in context of clinical findings, history, and other laboratory data. The intron 9 polyT status is only reported when R117H is detected.

Test Details