Cystic Fibrosis Rare Variant Analysis, Two Exons

Casandra

Casandra Test Code QD44839Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 10915CPT Code 81221

Cystic Fibrosis Rare Variant Analysis, Two Exons

Also known as: Cystic Fibrosis Analysis, CF, Two Exon

Clinical Use

Order Test

Use

This test is intended to identify two specific variants within the CFTR gene, useful for diagnosis, mutation confirmation, and screening in patients who have two known familial variants not included in standard CFTR mutation panels. It is particularly applied when rare familial variants are suspected that may not be covered by typical screening panels.

Special Instructions

Documentation of familial variant is required when ordering. For fetal samples, providers are advised to contact Quest’s GeneInfo at the specified number to discuss testing with a genetic counselor. Testing is to be ordered by a healthcare provider or licensed physician; informed consent is required based on applicable state law.

Limitations

Not explicitly provided in detail, but this assay only targets two specific variants in the CFTR gene, and does not perform full gene sequencing or screen for other variants beyond those familial ones. Circumstances where variant interpretation may change require provider follow‑up; the laboratory may contact ordering providers if reclassification has clinical implications.

Test Details